SUPPLEMENTARY INFORMATION In format provided by VissersIn format provided by Vissers et al. (JANUARY 2016) Supplementary information S1 (table): Genes linked to isolated ID and ID-‐associated

In format provided by Vissers et al. (JANUARY 2016)

Supplementary information S1 (table): Genes linked to isolated ID and ID-‐associated disorders Gene name Inheritance Associated Phenotype description and OMIM ID Year of publication A2ML1 AD Noonan-‐like syndrome with loose anagen hair, 607721 2014 ABCC9

AD

Cardiomyopathy, dilated, 1O, 608569 Atrial fibrillation, familial, 12, 614050 Hypertrichotic osteochondrodysplasia, 239850

2003

ABCD1 XL-‐R Adrenoleukodystrophy, 300100

Adrenomyeloneuropathy, adult, 300100 1993

ABCD4 AR Methylmalonic aciduria and homocystinuria, cblJ type, 614857 2012 ABHD5 AR Chanarin-‐Dorfman syndrome, 275630 2001 ACAD9 AR ACAD9 deficiency, 611126 2007 ACO2 AR Infantile cerebellar-‐retinal degeneration, 614559 2012 ACOX1 AR Peroxisomal acyl-‐CoA oxidase deficiency, 264470 1994 ACSF3 AR Combined malonic and methylmalonic aciduria, 614265 2011 ACSL4 XL-‐R Mental retardation, X-‐linked 63, 300387 2002

ACTB AD Dystonia, juvenile-‐onset, 607371

Baraitser-‐Winter syndrome 1, 243310 1999

ACTG1 AD Deafness, autosomal dominant 20/26, 604717

Baraitser-‐Winter syndrome 2, 614583 2003

ACVR1 AD Fibrodysplasia ossificans progressiva, 135100 2006 ACY1 AR Aminoacylase 1 deficiency, 609924 2005

ADAR AR Dyschromatosis symmetrica hereditaria, 127400

Aicardi-‐Goutieres syndrome 6, 615010 2003

ADAT3 AR Mental retardation, autosomal recessive 36, 615286 2013 ADCK3 AR Coenzyme Q10 deficiency, primary, 4, 612016 2008 ADK AR Hypermethioninemia due to adenosine kinase deficiency, 614300 2011 ADNP AD Mental retardation, autosomal dominant, 28, 615873 2012 ADSL AR ade(-‐)I bifunctional Adenylosuccinase deficiency, 103050 2012 AFF2 XL-‐R Mental retardation, X-‐linked, FRAXE type, 309548 1993 AGA AR Aspartylglucosaminuria, 208400 1991 AGPAT2 AR,AD Lipodystrophy, congenital generalized, type 1, 608594 2002 AGTR2 XL-‐R Mental retardation, X-‐linked 88, 300852 1999 AHCY AR Hypermethioninemia with deficiency of S-‐adenosylhomocysteine hydrolase, 613752 2004 AHDC1 AD Xia-‐Gibbs syndrome 2014 AHI1 AR Joubert syndrome-‐3, 608629 2004

AIFM1 AR Combined oxidative phosphorylation deficiency 6, 300816

Cowchock syndrome, 310490 2010

AIMP1 AR Leukodystrophy, hypomyelinating, 3, 260600 2010 AK1 AR Hemolytic anemia due to adenylate kinase deficiency, 612631 1989 AKT3 AD Megalencephaly-‐polymicrogyria-‐polydactyly-‐hydrocephalus syndrome, 603387 2012 ALDH18A1 AR Cutis laxa, autosomal recessive, type IIIA, 219150 2000 ALDH3A2 AR Sjogren-‐Larsson syndrome, 270200 1996 ALDH4A1 AR Hyperprolinemia, type II, 239510 1998 ALDH5A1 AR Succinic semialdehyde dehydrogenase deficiency, 271980 1998 ALG1 AR ngenital disorder of glycosylation, type Ik, 608540 2004 ALG12 AR Congenital disorder of glycosylation, type Ig, 607143 2002 ALG13 XL-‐D Congenital disorder of glycosylation, type Is, 300884 2012 ALG2 AR Congenital disorder of glycosylation, type Ii, 607906 2003 ALG3 AR Congenital disorder of glycosylation, type Id, 601110 1999 ALG6 AR Congenital disorder, type Ic, 603147 1999 ALG9 AR Congenital disorder of glycosylation, type Il, 608776 2004 ALX1 AR Frontonasal dysplasia 3, 613456 2010

ALX4 AR Parietal foramina 2, 609597

Frontonasal dysplasia 2, 613451 2000

AMPD2 AR Pontocerebellar hypoplasia, type 9 2013 AMT AR Glycine encephalopathy, 605899 1994 ANK3 AR ?Mental retardation, autosomal recessive, 37 2012

ANKH AR Craniometaphyseal dysplasia, 123000

Chondrocalcinosis 2, 118600 2001

ANKRD11 AD KBG syndrome, 148050 2011 ANO10 AR Spinocerebellar ataxia, autosomal recessive 10, 613728 2010

ANTXR1 AR GAPO syndrome, 230740

{Hemangioma, capillary infantile, susceptibility to}, 602089 2008

AP1S2 XL-‐R Mental retardation, X-‐linked syndromic, Fried type, 300630 2006 AP3B1 AR Hermansky-‐Pudlak syndrome 2, 608233 1999 AP4B1 AR Spastic paraplegia 47, autosomal recessive, 614066 2011 AP4E1 AR Spastic paraplegia 51, autosomal recessive, 613744 2011 AP4M1 AR Spastic paraplegia 50, autosomal recessive, 612936 2009 AP4S1 AR Spastic paraplegia 52, autosomal recessive, 614067 2011 APTX AR Ataxia, early-‐onset, with oculomotor apraxia and hypoalbuminemia, 208920 2001 ARFGEF2 AR Periventricular heterotopia with microcephaly, 608097 2004 ARG1 AR Argininemia, 207800 1990 ARHGEF6 XL-‐R Mental retardation, X-‐linked 46, 300436 2000 ARHGEF9 XL-‐R Epileptic encephalopathy, early infantile, 8, 300607 2004 ARID1A AD Mental retardation, autosomal dominant 14, 614607 2012

NATURE REVIEWS | GENETICS www.nature.com/reviews/genetics

SUPPLEMENTARY INFORMATION


ARID1B AD Mental retardation, autosomal dominant 12, 614562 2011 ARL13B AR Joubert syndrome 8, 612291 2008 ARL6

AR

Bardet-‐Biedl syndrome 3, 209900 {Bardet-‐Biedl syndrome 1, modifier of}, 209900 Retinitis pigmentosa 55, 613575

2004

ARSE XL-‐R Chondrodysplasia punctata, X-‐linked recessive, 302950 1995 ARX

XL-‐R

Epileptic encephalopathy, early infantile, 1, 308350 Lissencephaly, X-‐linked 2, 300215 Mental retardation, X-‐linked 29 and others, 300419 Proud syndrome, 300004 Partington syndrome, 309510 Hydranencephaly with abnormal genitalia, 300215

2002

ASL AR Argininosuccinic aciduria, 207900 1990 ASNS AR Asparagine synthetase deficiency, 615574 2009 ASPA AR Canavan disease, 271900 1993 ASPM AR Microcephaly 5, primary, autosomal recessive, 608716 2002

ASXL1 AD Bohring-‐Opitz syndrome, 605039 Myelodysplastic syndrome, somatic, 614286

2011

ASXL3 AD Bainbridge-‐Ropers syndrome, 615485 2013 ATIC AR AICA-‐ribosiduria due to ATIC deficiency, 608688 2004 ATP1A2

AD

Migraine, familial hemiplegic, 2, 602481 Alternating hemiplegia of childhood, 104290 Migraine, familial basilar, 602481

2003

ATP2A2 AD Darier disease, 124200 Acrokeratosis verruciformis, 101900

1999

ATP6AP2 XL-‐R Mental retardation, X-‐linked, with epilepsy, 300423 2005

ATP6V0A2 AR Cutis laxa, autosomal recessive, type IIA, 219200 Wrinkly skin syndrome, 278250

2008

ATP7A

XL-‐R

Menkes disease, 309400 Occipital horn syndrome, 304150 Spinal muscular atrophy, distal, X-‐linked 3, 300489

1993

ATP8A2 AR ?Cerebellar ataxia, mental retardation and dysequilibrium syndrome 4, 615268 2010

ATR AR Seckel syndrome 1, 210600 Cutaneous telangiectasia and cancer syndrome, familial, 614564

2003

ATRX

XL-‐R

Alpha-‐thalassemia/mental retardation syndrome, 301040 Alpha-‐thalassemia myelodysplasia syndrome, somatic, 300448 Mental retardation-‐hypotonic facies syndrome, X-‐linked, 309580

1995

AUH AR 3-‐methylglutaconic aciduria, type I, 250950 2002 AUTS2 AD Mental Retardation, autosomal dominant 26, 615834 2002 B3GALTL AR Peters-‐plus syndrome, 261540 2006 B4GALT1 AR Congenital disorder of glycosylation, type IId, 607091 2002 B4GALT7 AR Ehlers-‐Danlos syndrome, progeroid type, 1, 130070 1999 BBS1 AR Bardet-‐Biedl syndrome 1, 209900 2002 BBS10 AR Bardet-‐Biedl syndrome 10, 209900 2006 BBS12 AR Bardet-‐Biedl syndrome 12, 209900 2007 BBS2 AR Bardet-‐Biedl syndrome 2, 209900 2001 BBS4 AR Bardet-‐Biedl syndrome 4, 209900 2001 BBS5 AR Bardet-‐Biedl syndrome 5, 209900 2004 BBS7 AR Bardet-‐Biedl syndrome 7, 209900 2003 BBS9 AR Bardet-‐Biedl syndrome 9, 209900 2003 BCKDHA AR Maple syrup urine disease, type Ia, 248600 1989 BCKDHB AR Maple syrup urine disease, type Ib, 248600 1991 BCL11A AD Mental retardation, autosomal dominant 2015 BCOR XL-‐D/R Microphthalmia, syndromic 2, 300166 2004 BCS1L

AR

Mitochondrial complex III deficiency, nuclear type 1, 124000 Leigh syndrome, 256000 Bjornstad syndrome, 262000 GRACILE syndrome, 603358

2001

BLM AR Bloom syndrome, 210900 1995

BRAF

AD

Melanoma, malignant, somatic Colorectal cancer, somatic Adenocarcinoma of lung, somatic, 211980 Nonsmall cell lung cancer, somatic Cardiofaciocutaneous syndrome, 115150 Noonan syndrome 7, 613706 LEOPARD syndrome 3, 613707

2006

BRWD3 XL-‐R Mental retardation, X-‐linked 93, 300659 2007 BSCL2

AR,AD

Lipodystrophy, congenital generalized, type 2, 269700 Silver spastic paraplegia syndrome, 270685 Neuropathy, distal hereditary motor, type V, 600794

2001

BTD AR Biotinidase deficiency, 253260 1995 BUB1B

AR,AD

Colorectal cancer, somatic, 114500 Mosaic variegated aneuploidy syndrome 1, 257300 [Premature chromatid separation trait], 176430

1998

C12orf57 AR Temtamy syndrome, 218340 2011

C12orf65 AR Combined oxidative phosphorylation deficiency 7, 613559 Spastic paraplegia 55,autosomal recessive, 615035

2010




C5ORF42 AR Joubert syndrome 17, 614615 2012 C7orf11 AR Nonphotosensitive trichothiodystrophy 4 2005 CA2 AR Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 1991 CA8 AR Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 2009 CACNG2 AD Mental retardation, autosomal dominant 10, 614256 2006 CAMTA1 AD Cerebellar ataxia nonprogressive with mental retardation 2012 CASK

XL-‐D

Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 FG syndrome 4, 300422 Mental retardation, with or without nystagmus, 300422

2008

CBL AD onan syndrome-‐like disorder with or without juvenile myelomonocytic leukemia, 613563 1995

CBS AR Homocystinuria, B6-‐responsive and nonresponsive types, 236200 Thrombosis, hyperhomocysteinemic, 236200

1992

CC2D1A AR Mental retardation, autosomal recessive 3, 608443 2006 CC2D2A

AR

Joubert syndrome 9, 612285 Meckel syndrome 6, 612284 COACH syndrome, 216360

2008

CCBE1 AR Hennekam lymphangiectasia-‐lymphedema syndrome, 235510 2009 CCDC78 AD Myopathy, centronuclear, 4, 614807 2012 CDH15 AD Mental retardation, autosomal dominant 3, 612580 2008 CDK5RAP2 AR Microcephaly 3, primary, autosomal recessive, 604804 2005

CDKL5 XL-‐D Epileptic encephalopathy, early infantile, 2, 300672 Angelman syndrome-‐like, 105830

2003

CDON AD Holoprosencephaly 11, 614226 2011

CENPJ AR Microcephaly 6, primary, autosomal recessive, 608393 Seckel syndrome 4, 613676

2005

CEP135 AR Microcephaly 8, primary, autosomal recessive, 614673 2012

CEP152 AR Microcephaly 9, primary, autosomal recessive, 614852 Seckel syndrome 5, 613823

2010

CEP290

AR

Joubert syndrome 5, 610188 Senior-‐Loken syndrome 6, 610189 Leber congenital amaurosis 10, 611755 Meckel syndrome 4, 611134 Bardet-‐Biedl syndrome 14, 209900

2006

CEP41 AR Joubert syndrome 15, 614464 2011 CHAMP1 AD Mental retardation, autosomal dominant 2015 CHD2 AD Epileptic encephalopathy, childhood-‐onset, 615369 2008 CHD7

AD

CHARGE syndrome, 214800 {Scoliosis, idiopathic 3}, 608765 Hypogonadotropic hypogonadism 5 with or without anosmia, 612370

2004

CHD8 AD {Autism, susceptibility to, 18}, 615032 2007 CHKB AR Muscular dystrophy, congenital, megaconial type, 602541 2011

CLCNKB AR Bartter syndrome, type 3, 607364 Bartter syndrome, type 4b, digenic, 613090

1997

CLIC2 XL-‐R Mental retardation, X-‐linked, syndromic 32, 300886 2011 CLN3 AR Ceroid lipofuscinosis, neuronal, 3, 204200 1995 CLN5 AR Ceroid lipofuscinosis, neuronal, 5, 256731 1998

CLN6 AR Ceroid lipofuscinosis, neuronal, 6, 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300

2002

CLN8 AR Ceroid lipofuscinosis, neuronal, 8, 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003

1999

CNTNAP2

AR

Cortical dysplasia-‐focal epilepsy syndrome, 610042 {Autism susceptibility 15}, 612100 Pitt-‐Hopkins like syndrome 1, 610042

2003

COG1 AR Congenital disorder of glycosylation, type IIg, 611209 2006

COG6 AR Congenital disorder of glycosylation, type 2l, 614576 Shaheen syndrome, 615328

2010

COG7 AR Congenital disorder of glycosylation, type IIe, 608779 2004 COG8 AR Congenital disorder of glycosylation, type IIh, 611182 2007 COL4A1

AD

Porencephaly 1, 175780 Brain small vessel disease with hemorrhage, 607595 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773 Brain small vessel disease with Axenfeld-‐Rieger anomaly, 607595 {Hemorrhage, intracerebral, susceptibility to}, 614519

2005

COL4A2 AD Porencephaly 2, 614483 {Hemorrhage, intracerebral, susceptibility to}, 614519

2012

COL4A3BP AD Mental retardation, autosomal dominant 34 2012 COLEC11 AR 3MC syndrome 2, 265050 2011

COQ2 AR Coenzyme Q10 deficiency, primary, 1, 607426 {Multiple system atrophy, susceptibility to}, 146500

2006

COX10 AR Leigh syndrome due to mitochondrial COX4 deficiency, 256000 Mitochondrial complex IV deficiency, 220110

2000

COX15 AR Leigh syndrome due to cytochrome c oxidase deficiency, 256000 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119

2003

CPS1

AR

Carbamoylphosphate synthetase I deficiency, 237300 {Pulmonary hypertension, neonatal, susceptibility to}, 615371 {Venoocclusive disease after bone marrow transplantation}

1993

CRADD AR Mental retardation, autosomal recessive 34, 614499 2012




CRBN AR Mental retardation, autosomal recessive 2, 607417 2004 CREBBP AD Rubinstein-‐Taybi syndrome, 180849 1995 CTCF AD Mental retardation, autosomal dominant 21, 615502 2013 CTDP1 AR Congenital cataracts, facial dysmorphism, and neuropathy, 604168 2003 CTNNB1

AD

Mental retardation, autosomal dominant 19, 615075 Colorectal cancer, somatic, 114500 Pilomatricoma, somatic, 132600 Ovarian cancer, somatic, 167000 Hepatocellular carcinoma, somatic, 114550

2004

CTSA AR Galactosialidosis, 256540 1990 CTSD AR Ceroid lipofuscinosis, neuronal, 10, 610127 1999

CTTNBP2 AD No OMIM phenotype Autism (Iossifov (2012) Neuron 74,285) 2012

CUBN AR Megaloblastic anemia-‐1, Finnish type, 261100 1999 CUL4B XL-‐R Mental retardation, X-‐linked, syndromic 15 (Cabezas type), 300354 2007

CYB5R3 AR Methemoglobinemia, type I, 250800 Methemoglobinemia, type II, 250800 1990

D2HGDH AR D-‐2-‐hydroxyglutaric aciduria, 600721 2005 DARS2 AR Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 2007 DBT AR Maple syrup urine disease, type II, 248600 1991 DCAF17 AR Woodhouse-‐Sakati syndrome, 241080 2008

DCX XL-‐D Lissencephaly, X-‐linked, 300067 Subcortical laminal heteropia, X-‐linked, 300067

1997

DDHD2 AR Spastic paraplegia 54, autosomal recessive, 615033 2012 DDX11 AR Warsaw breakage syndrome, 613398 2010 DDX3X XL-‐D Mental retardation, X-‐linked 2015 DEAF1 AD Mental retardation, autosomal dominant 24, 615828 2010 DHCR24 AR Desmosterolosis, 602398 2001 DHCR7 AR Smith-‐Lemli-‐Opitz syndrome, 270400 1998 DHFR AR Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 2001

DHTKD1 AD,AR 2-‐aminoadipic 2-‐oxoadipic aciduria, 204750 Charcot-‐Marie-‐Tooth disease, axonal, type 2Q, 615025

2012

DIP2B AD Mental retardation, FRA12A type, 136630 2007 DKC1 XL-‐R Dyskeratosis congenita, X-‐linked, 305000 1998 DLD AR Dihydrolipoamide dehydrogenase deficiency, 246900 1993 DLG3 XL-‐R Mental retardation, X-‐linked 90, 300850 2004 DMD

XL-‐R

Duchenne muscular dystrophy, 310200 Becker muscular dystrophy, 300376 Cardiomyopathy, dilated, 3B, 302045

1981

DMPK AD Myotonic dystrophy 1, 160900 1992 DNAJC19 AR 3-‐methylglutaconic aciduria, type V, 610198 2006 DNM1 AD Mental retardation, autosomal dominant 2015 DNMT3A AD Tatton-‐Brown-‐Rahman syndrome, 615879 2010 DNMT3B AR Immunodeficiency-‐centromeric instability-‐facial anomalies syndrome 1, 242860 1999

DOCK8 AD Mental retardation, autosomal dominant 2, 614113 Hyper-‐IgE recurrent infection syndrome, autosomal recessive, 243700

2008

DPAGT1 AR Congenital disorder of glycosylation, type Ij, 608093 Myasthenic syndrome, congenital, with tubular aggregates 2, 614750

2003

DPM1 AR Congenital disorder of glycosylation, type Ie, 608799 2000 DPP6 AD Mental retardation, autosomal dominant 33 2013

DPYD AR Dihydropyrimidine dehydrogenase deficiency, 274270 5-‐fluorouracil toxicity, 274270

1995

DST AR Neuropathy, hereditary sensory and autonomic, type VI, 614653 Epidermolysis bullosa simplex, sutosomal recessive 2, 615425

2004

DYM

AR

Dyggve-‐Melchior-‐Clausen disease, 223800 Smith-‐McCort dysplasia, 607326 Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388

2003

DYNC1H1

AD

Charcot-‐Marie-‐Tooth disease, axonal, type 20, 614228 Mental retardation, autosomal dominant 13, 614563 Spinal muscular atrophy, lower extremity-‐predominant, AD, 158600

2010

DYRK1A AD Mental retardation, autosomal dominant 7, 614104 2007 EBP XL-‐D Chondrodysplasia punctata, X-‐linked dominant, 302960 1999 EFTUD2 AD Mandibulofacial dysostosis, Guion-‐Almeida type, 610536 2012 EHMT1 AD Kleefstra syndrome, 610253 2005 EIF2AK3 AR Wolcott-‐Rallison syndrome, 226980 2000 EIF4G1 AD Parkinsons disease 18, 614251 2011 ELOVL4

AR

Stargardt disease 3, 600110 Macular dystrophy, autosomal dominant, chromosome 6-‐linked, 600110 Ichthyosis, spastic quadriplegia, and mental retardation, 614457

2001

EMX2 AD Schizencephaly, 269160 1996

EP300 AD Colorectal cancer, somatic, 114500 Rubinstein-‐Taybi syndrome 2, 613684 2005

EPB41L1 AD Mental retardation, autosomal dominant 11, 614257 2011 ERCC2

AR

Xeroderma pigmentosum, group D, 278730 Trichothiodystrophy, 601675 Cerebrooculofacioskeletal syndrome 2, 610756

1994




ERCC3 AR Xeroderma pigmentosum, group B, 610651 Trichothiodystrophy, 601675

1990

ERCC5 AR Xeroderma pigmentosum, group G, 278780 Xeroderma pigmentosum, group G/Cockayne syndrome, 278780

1994

ERCC6

AR

Cockayne syndrome, type B, 133540 Cerebrooculofacioskeletal syndrome 1, 214150 De Sanctis-‐Cacchione syndrome, 278800 {Macular degeneration, age-‐related, susceptibility to 5}, 613761 UV-‐sensitive syndrome 1, 600630 {Lung cancer, susceptibility to}, 211980

1991

ERCC8 AR Cockayne syndrome, type A, 216400 UV-‐sensitive syndrome 2, 614621

1995

ERLIN2 AR Spastic paraplegia 18, autosomal recessive, 611225 2011

ESCO2 AR Roberts syndrome, 268300 SC phocomelia syndrome, 269000

2005

ETFB AR Glutaric acidemia 2B, 231680; 1994 ETHE1 AR Ethylmalonic encephalopathy, 602473 2004 EXOSC3 AR Pontocerebellar hypoplasia, type 1B, 614678 2012 EZH2 AD Weaver syndrome 2012 FAM126A AR Leukodystrophy, hypomyelinating, 5, 610532 2006 FBN1

AD

Marfan syndrome, 154700 Ectopia lentis, familial, 129600 MASS syndrome, 604308 Weill-‐Marchesani syndrome 2, dominant, 608328 Aortic aneurysm, ascending, and dissection Stiff skin syndrome, 184900 Acromicricdysplasia, 102370 Geleophysic dysplasia 2, 614185

1991

FBXO31 AR Mental retardation, autosomal recessive 45 2014

FGD1 XL-‐D Aarskog-‐Scott syndrome, 305400 Mental retardation, X-‐linked syndromic 16, 305400

1994

FGFR1

AD

Pfeiffer syndrome, 101600 Jackson-‐Weiss syndrome, 123150 Hypogonadotropic hypogonadism2 with or without anosmia, 147950 Osteoglophonic dysplasia, 166250 Trigonocephaly 1, 190440 Hartsfield syndrome, 615465

1994

FGFR2

AD

Crouzon syndrome, 123500 Jackson-‐Weiss syndrome, 123150 Beare-‐Stevenson cutis gyrata syndrome, 123790 Pfeiffer syndrome, 101600 Apert syndrome, 101200 Saethre-‐Chotzen syndrome, 101400 Craniosynostosis, nonspecific Gastric cancer, somatic, 613659 Craniofacial-‐skeletal-‐dermatologic dysplasia, 101600 Antley-‐Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 Scaphocephaly and Axenfeld-‐Rieger anomaly LADD syndrome, 149730 Scaphocephaly, maxillary retrusion, and mental retardation, 609579 Bent bone dysplasia syndrome, 614592

1994

FGFR3

AD

Achondroplasia, 100800 Hypochondroplasia, 146000 Thanatophoric dysplasia, type I, 187600 Crouzon syndrome with acanthosis nigricans, 612247 Muenke syndrome, 602849 Bladder cancer, somatic, 109800 Colorectal cancer, somatic, 114500 Cervical cancer, somatic, 603956 LADD syndrome, 149730 CATSHL syndrome, 610474 Nevus, epidermal, somatic, 162900 Thanatophoric dysplasia, type II, 187601 Spermatocytic seminoma, somatic, 273300

1994

FH AR,AD Fumarase deficiency, 606812 Leiomyomatosis and renal cell cancer, 150800

1993

FIGN AD No OMIM phenotype 2015

FKRP AR Muscular dystrophy-‐dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 Muscular dystrophy-‐dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612 Muscular dystrophy-‐dystroglycanopathy (limb-‐girdle), type C, 5, 607155

2001




FKTN AR

Muscular dystrophy-‐dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 Muscular dystrophy-‐dystroglycanopathy (congenital without mental retardation), type B, 4, 613152 Cardiomyopathy, dilated, 1X, 611615 Muscular dystrophy-‐dystroglycanopathy (limb-‐girdle), type C, 4, 611588

1998

FLNA

XL-‐D/R

Heterotopia, periventricular, 300049 Otopalatodigital syndrome, type I, 311300 Otopalatodigital syndrome, type II, 304120 Intestinal pseudoobstruction, neuronal, 300048 Melnick-‐Needles syndrome, 309350 Frontometaphyseal dysplasia, 305620 Heterotopia, periventricular, ED variant, 300537 FG syndrome 2, 300321 Cardiac valvular dysplasia, X-‐linked, 314400 Terminal osseous dysplasia, 300244 Congenital short bowel syndrome, 300048

1998

FLVCR1 AR Ataxia, posterior column, with retinitis pigmentosa, 609033 2010 FMN2 AR Mental retardation, autosomal recessive 47 2014 FMR1

XL-‐D

Fragile X syndrome, 300624 Fragile X tremor/ataxia syndrome, 300623 Premature ovarian failure 1, 311360

1991

FOXG1 AD Rett syndrome, congenital variant, 613454 2005 FOXP1 AD Mental retardation with language impairment and autistic features, 613670 2009 FOXP2 AD Speech-‐language disorder-‐1, 602081 2000 FRAS1 AR Fraser syndrome, 219000 2003 FTO AR Growth retardation, developmental delay, coarse facies, and early death, 612938 2007 FTSJ1 XL-‐R Mental retardation, X-‐linked 9, 309549 2004 FUCA1 AR Fucosidosis, 230000 1989 GABRA1 AD Epileptic encephalopathy, early infantile, 19, 615744 (3) 2002 GAD1 AR Cerebral palsy, spastic quadriplegic, 1, 603513 2004 GALE AR Galactose epimerase deficiency, 230350 1997 GALT AR Galactosemia, 230400 1990 GAMT AR Cerebral creatine deficiency syndrome 2, 612736 1996 GATAD2B AD Mental retardation, autosomal dominant 18, 615074 2012 GATM AR Cerebral creatine deficiency syndrome 3, 612718 2001

GCH1 AR,AD Dystonia, DOPA-‐responsive, with or without hyperphenylalaninemia, 128230 Hyperphenylalaninemia, BH4-‐deficient, B, 233910

1994

GCSH AR Glycine encephalopathy, 605899 1991 GDI1 XL-‐R Mental retardation, X-‐linked 41, 300849 1998 GFAP AD Alexander disease, 203450 2001 GJB1 XL-‐D Charcot-‐Marie-‐Tooth neuropathy, X-‐linked dominant, 1, 302800 1993 GJC2

AR

Leukodystrophy, hypomyelinating, 2, 608804 Spastic paraplegia 44, autosomal recessive, 613206 Lymphedema, hereditary, IC, 613480

2004

GK XL-‐R Glycerol kinase deficiency, 307030 1996 GLB1

AR

GM1-‐gangliosidosis, type I, 230500 GM1-‐gangliosidosis, type II, 230600 GM1-‐gangliosidosis, type III, 230650 Mucopolysaccharidosis type IVB (Morquio), 253010

1991

GLDC AR Glycine encephalopathy, 605899 1991 GLI2 AD Holoprosencephaly-‐9, 610829 2003 GLI3

AD

Greig cephalopolysyndactyly syndrome, 175700 Pallister-‐Hall syndrome, 146510 Polydactyly, preaxial, type IV, 174700 Polydactyly, postaxial, types A1 and B, 174200 {Hypothalamic hamartomas, somatic}, 241800

1983

GM2A AR GM2-‐gangliosidosis, AB variant, 272750 1991 GMPPA AR Alacrima, achalasia, and mental retardation syndrome, 615510 (3) 2013 GMPPB

AR

Muscular dystrophy-‐dystroglycanopathy (congenital with brain and eye anomalies), type A,14, 6135350 Muscular dystrophy-‐dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 Muscular dystrophy-‐dystroglycanopathy (limb-‐girdle), type C, 14, 615352

2013

GNAO1 AD Epileptic encephalopathy, early infantile, 17, 615473 2013 GNAS

AD

Pseudohypoparathyroidism Ia, 103580 McCune-‐Albright syndrome, 174800 Pseudohypoparathyroidism Ic, 612462 Osseous heteroplasia, progressive, 166350 Pseudohypoparathyroidism Ib, 603233 Prolonged bleeding time, brachydactyly and mental retardation Acromegaly, 102200 Pseudopseudohypoparathyroidism, 612463 Prolonged bleeding time, brachydactyly, and mental retardation ACTH-‐independent macronodular adrenal hyperplasia, 219080

1990

GNPAT AR Chondrodysplasia punctata, rhizomelic, type 2, 222765 1998 GNS AR Mucopolysaccharidosis type IIID, 252940 2003




GPC3 XL-‐R Simpson-‐Golabi-‐Behmel syndrome, type 1, 312870 Wilms tumor, somatic, 194070

1996

GPHN AD Molybdenum cofactor deficiency, type C, 252150 2001 GPR56 AR Polymicrogyria, bilateral frontoparietal, 606854 2004 GPT2 AR Mental retardation, autosomal recessive 49 2015 GRIA3 XL-‐R Mental retardation, X-‐linked 94, 300699 1999 GRID2 AR Spinocerebellar ataxia, autosomal recessive 18 2013 GRIK2 AR Mental retardation, autosomal recessive, 6, 611092 2007 GRIN1 AD Mental retardation, autosomal dominant 8, 614254 2011 GRIN2A AD Epilepsy with neurodevelopmental defects, 613971 2003 GRIN2B AD Mental retardation, autosomal dominant 6, 613970 2001 GRIN3B AD ?ASD 2011 GRM1 AR Spinocerebellar ataxia, autosomal recessive 13, 614831 2011

GSE1 AD No OMIM phenotype Autism (Sanders (2012) Nature 485,237)

2012

GSS AR Hemolytic anemia due to glutathione synthetase deficiency, 231900 1996 GTF2H5 AR Trichothiodystrophy, complementation group A, 601675 2004 GUSB AR Mucopolysaccharidosis VII, 253220 1991 HAX1 AR Neutropenia, severe congenital 3, autosomal recessive, 610738 2007 HCCS XL-‐D Microphthalmia, syndromic 7, 309801 2006 HCFC1 XL-‐R Mental retardation, X-‐linked 3, 309541 2012 HCN1 AD infantile epileptic encephalopathy 2014 HDAC4 AD Brachydactyly-‐mental retardation syndrome, 600430 2010 HDAC6 XL-‐D Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, 300863 2013

HDAC8 XL-‐D/R Wilson-‐Turner syndrome, 309585 Cornelia de Lange syndrome 5, 300882

2012

HECTD1 AD No OMIM phenotype 2015 HERC1 AD Mental retardation, autosomal dominant 2015 HERC2

AR

Mental retardation, autosomal recessive 38, 615516 [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220

2012

HESX1

AR

Septooptic dysplasia, 182230 Pituitary hormone deficiency, combined, 5, 182230 Growth hormone deficiency with pituitary anomalies, 182230

1998

HEXA

AR

Tay-‐Sachs disease, 272800 GM2-‐gangliosidosis, several forms, 272800 [Hex A pseudodeficiency], 272800

1986

HEXB AR Sandhoff disease, infantile, juvenile, and adult forms, 268800 1989 HLCS AR Holocarboxylase synthetase deficiency, 253270 1994

HOXA1 AR Bosley-‐Salih-‐Alorainy syndrome, 601536 Athabaskan brainstem dysgenesis syndrome, 601536

2000

HPD AR,AD Tyrosinemia, type III, 276710 Hawkinsinuria, 140350

2000

HPRT1 XL-‐R Lesch-‐Nyhan syndrome, 300322 1983 HRAS

AD

{Bladder cancer, somatic}, 109800 Costello syndrome, 218040 {Thyroid carcinoma, follicular, somatic}, 188470 Congenital myopathy with excess of muscle spindles, 218040 {Nevus sebaceous, somatic}, 162900 Schimmelpenning-‐Feuerstein-‐Mims syndrome, somatic mosaic, 163200

1993

HSD17B10

XL-‐R

17-‐beta-‐hydroxysteroid dehydrogenase X deficiency, 300438 Mental retardation, X-‐linked syndromic 10, 300220 Mental retardation, X-‐linked 17/31, microduplication, 300705

2003

HSPD1 AD Spastic paraplegia 13, autosomal dominant, 605280 Leukodystrophy, hypomyelinating, 4, 612233

2002

HUWE1 XL-‐D Mental retardation, X-‐linked syndromic, Turner type, 300706 2007 IDS XL-‐R Mucopolysaccharidosis II, 309900 1983 IDUA

AR

Mucopolysaccharidosis Ih, 607014 Mucopolysaccharidosis Is, 607016 Mucopolysaccharidosis Ih/s, 607015

1992

IER3IP1 AR Microcephaly, epilepsy, and diabetes syndrome, 614231 2011 IFT172 AR Short-‐rib thoracic dysplasia 10 with or without polydactyly, 615630 2013

IGBP1 XL-‐R Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, 300472 2003

IGF1 AR Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 1996 IKBKG

XL-‐D

Incontinentia pigmenti, type II, 308300 Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291 Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 Immunodeficiency, isolated, 300584 {Atypical mycobacteriosis, familial}, 300636 Invasive pneumococcal disease, recurrent isolated, 2, 300640

2000

IL1RAPL1 XL-‐R Mental retardation, X-‐linked 21/34, 300143 1999

INPP5E AR Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 Joubert syndrome 1, 213300

2009

IQSEC2 XL-‐R Mental retardation, X-‐linked 1, 309530 2008




ISPD AR Muscular dystrophy-‐dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 2012 ITPR1 AD Spinocerebellar ataxia 15 2007 JAG1

AD

Alagille syndrome, 118450 Deafness, congenital heart defects and posterior embryotoxon Tetralogy of Fallot, 187500

1997

JAM3 AR Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 2010 KANK1 AD Cerebral palsy, spastic quadriplegic, 2, 612900 2005 KANSL1 AD Koolen-‐De Vries syndrome, 610443 2012 KAT6A AD Mental retardation, autosomal dominant 32 2015

KAT6B AD SBBYSS syndrome, 603736 Genitopatellar syndrome, 606170

2011

KCNH1 AD Zimmermann-‐Laband syndrome 2015

KCNJ10 AR SESAME syndrome, 612780 Enlarged vestibular aqueduct, digenic, 600791

2004

KCNJ11

AD

Hyperinsulinemic hypoglycemia, familial, 2, 601820 Diabetes, permanent neonatal, 606176 Diabetes mellitus, permanent neonatal, with neurologic features, 606176 {Diabetes mellitus, type 2, susceptibility to}, 125853 Diabetes mellitus, transient neonatal, 3, 610582

1996

KCNK9 AD Birk-‐Barel mental retardation dysmorphism syndrome, 612292 2008 KCNQ2

AD

Seizures, benign neonatal, 1, 121200 Myokymia, 121200 Epileptic encephalopathy, early infantile, 7, 613720

1998

KCNT1 AD Epileptic encephalopathy, early infantile, 14, 614959 Epilepsy, nocturnal frontal lobe, 5, 615005

2012

KCTD7 AR Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 2007 KDM5C XL-‐R Mental retardation, X-‐linked, syndromic, Claes-‐Jensen type, 300534 2005 KDM6A XL-‐D Kabuki syndrome 2, 300867 2009 KIAA0226 AR ?Spinocerebellar ataxia, autosomal recessive 15, 615705 2010 KIAA1033 AR ?Mental retardation, autosomal recessive 43, 615817 2011

KIAA1109 AD No OMIM phenotype Schizophrenia (Gulsuner (2013) Cell 154,518) 2013

KIAA1279 AR Goldberg-‐Shprintzen megacolon syndrome, 609460 2005 KIAA2022 XL-‐D Mental retardation, X-‐linked 98, 300912 2004 KIF11 AD Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 2012 KIF1A AD progressive encephalopathy and brain atrophy 2015 KIF5C AD Cortical dysplasia, complex, with other brain malformations 2, 615282 2012 KIF7

AR

Hydrolethalus syndrome 2, 614120 Acrocallosal syndrome, 200990 Joubert syndrome 12, 200990

2011

KIRREL3 AD Mental retardation, autosomal dominant 4, 612581 2008

KMT2A AD Leukemia, myeloid/lymphoid or mixed-‐lineage, 159555 Wiedemann-‐Steiner syndrome, 605130 2012

KMT2D AD Kabuki syndrome 1, 147920 2010 KPTN AR Mental retardation, autosomal recessive 41, 615637 (3) 2014 KRAS AD Lung cancer, somatic, 211980 2006 KRBOX4 XL-‐R Mental retardation, retinal dystrophy and short stature 2006 L1CAM

XL-‐R

Hydrocephalus due to aqueductal stenosis, 307000 MASA syndrome, 303350 CRASH syndrome, 303350 Hydrocephalus with Hirschsprung disease, 307000 Hydrocephalus with congenital idiopathic intestinal pseudoobstruction, 307000 Corpus callosum, partial agenesis of, 304100

1992

L2HGDH AR L-‐2-‐hydroxyglutaric aciduria, 236792 2004 LAMA1 AR Poretti-‐Boltshauser syndrome, 615960 2011

LAMA2 AR Muscular dystrophy, congenital merosin-‐deficient, 607855 Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855

1995

LAMC3 AR Cortical malformations, occipital, 614115 2011 LAMP2 XL-‐D Danon disease, 300257 2000

LARGE AR Muscular dystrophy-‐dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 Muscular dystrophy-‐dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 2003

LARP7 AR Alazami syndrome, 615071 2012 LIG4

AR

LIG4 syndrome, 606593 {Multiple myeloma, resistance to}, 254500 Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450

2001

LINS AR Mental retardation, autosomal recessive 27, 614340 2011 LRP2 AR Donnai-‐Barrow syndrome, 222448 2006 LRPPRC AR Leigh syndrome, French-‐Canadian type, 220111 2003 MAGEL2 AD Prader-‐Willi-‐like syndrome, 615547 2013

MAGT1 XL-‐D Mental retardation, X-‐linked 95, 300716 Immunodeficiency, X-‐linked, with magnesium defect, Epstein-‐Barr virus infection and neoplasia, 300853

2008

MAN1B1 AR Mental retardation, autosomal recessive 15, 614202 2009 MAN2B1 AR Mannosidosis, alpha-‐, types I and II, 248500 1997 MANBA AR Mannosidosis, beta, 248510 1998




MAOA XL-‐R Brunner syndrome, 300615 1993 MAP2K1 AD Cardiofaciocutaneous syndrome 3, 615279 2006 MAP2K2 AD Cardiofaciocutaneous syndrome 4, 615280 2006 MAT1A

AR

Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 Methionine adenosyltransferase deficiency, autosomal recessive, 250850

1995

MBD5 AD Mental retardation, autosomal dominant 1, 156200 2007

MBTPS2 XL-‐R IFAP syndrome with or without BRESHECK syndrome, 308205 Keratosis follicularis spinulosa decalvans, X-‐linked, 308800

2009

MCCC1 AR 3-‐Methylcrotonyl-‐CoA carboxylase 1 deficiency, 210200 2001 MCCC2 AR 3-‐Methylcrotonyl-‐CoA carboxylase 2 deficiency, 210210 2001 MCOLN1 AR Mucolipidosis IV, 252650 2002 MCPH1 AR Microcephaly 1, primary, autosomal recessive, 251200 2002

MECP2

XL-‐D/R

Rett syndrome, 312750 Mental retardation, X-‐linked, syndromic 13, 300055 Rett syndrome, preserved speech variant, 312750 Encephalopathy, neonatal severe, 300673 {Autism susceptibility, X-‐linked 3}, 300496 Angelman syndrome, 105830 Mental retardation, X-‐linked syndromic, Lubs type, 300260

1999

MED12

XL-‐R

Opitz-‐Kaveggia syndrome, 305450 Lujan-‐Fryns syndrome, 309520 Ohdo syndrome, X-‐linked, 300895

2007

MED13L AD Transposition of the great arteries, dextro-‐looped 1, 608808 2003 MED17 AR Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 2010 MED23 AR Mental retardation, autosomal recessive 18, 614249 2011

MEF2C AD Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 Chromosome 5q14.3 deletion syndrome, 613443

2009

METTL23 AR Mental retardation, autosomal recessive 44 2014 MGAT2 AR Congenital disorder of glycosylation, type IIa, 212066 1996 MID1 XL-‐R Opitz GBBB syndrome, type I, 300000 1997

MKKS AR McKusick-‐Kaufman syndrome, 236700 Bardet-‐Biedl syndrome 6, 209900

2000

MLYCD AR Malonyl-‐CoA decarboxylase deficiency, 248360 1999 MMAA AR Methylmalonic aciduria, vitamin B12-‐responsive, 251100 2004 MMACHC AR Methylmalonic aciduria and homocystinuria, cblC type, 277400 2006 MMADHC AR Methylmalonic aciduria and homocystinuria, cblD type 2008 MOCS1 AR Molybdenum cofactor deficiency, type A, 252150 1998 MOCS2 AR Molybdenum cofactor deficiency, type B, 252150 1999 MOGS AR Congenital disorder of gycosylation, type 2b, 606056 2000 MPDU1 AR Congenital disorder of glycosylation, type If, 609180 2001 MPDZ AD Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 2011 MRPS22 AR Combined oxidative phosphorylation deficiency 5, 611719 2007 MTHFR

AR

Homocystinuria due to MTHFR deficiency, 236250 {Neural tube defects, susceptibility to}, 601634 {Schizophrenia, susceptibility to}, 181500 {Thromboembolism, susceptibility to}, 188050 {Vascular disease, susceptibility to}

1994

MTR AR Homocystinuria-‐megaloblastic anemia, cblG complementation type, 250940 {Neural tube defects, folate-‐sensitive, susceptibility to}, 601634

1996

MTRR AR Homocystinuria-‐megaloblastic anemia, cbl E type, 236270 1998 MUT AR Methylmalonic aciduria, mut(0) type, 251000 1990 MVK

AR

Mevalonic aciduria, 610377 Hyper-‐IgD syndrome, 260920 Porokeratosis 3, disseminated superficial actinic, 175900

1992

MYCN AD Feingold syndrome, 164280 2005

MYH9 AD Deafness, autosomal dominant 17; Epstein syndrome; Fechtner syndrome; May-‐Hegglin syndrome; Sebastian syndrome; Macrothrombocytppenia and progressive sensorineural deafness 2012

MYO5A AR Griscelli syndrome, type 1, 214450 1997 MYT1L AD ID with behavioural disorder 2015 NAA10 XL-‐R N-‐terminal acetyltransferase deficiency, 300855 2011 NAGA

AR

Schindler disease, type I, 609241 Kanzaki disease, 609242 Schindler disease, type III, 609241

1990

NAGLU AR Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 1995 NALCN AR ?Neuroaxonal neurodegeneration, infantile, with facial dysmophism, 615419 2013 NBN

AR

Aplastic anemia, 609135 Leukemia, acute lymphoblastic, 613065 Nijmegen breakage syndrome, 251260

1998

NDE1 AR Lissencephaly 4 (with microcephaly), 614019 2010

NDP XL-‐R Norrie disease, 310600 Exudative vitreoretinopathy, X-‐linked, 305390

1992

NDST1 AR Mental retardation, autosomal recessive 46 2011 NDUFA1 XL-‐D Mitochondrial complex I deficiency, 252010 2007 NDUFA11 AR Mitochondrial complex I deficiency, 252010 2008 NDUFA12 AR Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 2011




NDUFS1 AR Mitochondrial complex I deficiency, 252010 2001 NDUFS2 AR Mitochondrial complex I deficiency, 252010 2001

NDUFS3 AR Leigh syndrome due to mitochondrial complex I deficiency, 256000 Mitochondrial complex I deficiency, 252010

2004

NDUFS4 AR Leigh syndrome, 256000 Mitochondrial complex I deficiency, 252010

1998 NDUFS7 AR Leigh syndrome, 256000 1999 NDUFS8 AR Leigh syndrome due to mitochondrial complex I deficiency, 256000 1998 NDUFV1 AR Mitochondrial complex I deficiency, 252010 1999 NEDD4L AD epileptic encephalopathy 2013

NEU1 AR Sialidosis, type I, 256550 Sialidosis, type II, 256550

1996

NF1

AD

Neurofibromatosis, type 1, 162200 Leukemia, juvenile myelomonocytic, 607785 Melanoma, desmoplastic neurotrophic (2) Neurofibromatosis, familial spinal, 162210 Neurofibromatosis-‐Noonan syndrome, 601321 Watson syndrome, 193520

1989

NFATC1 AD Mental retardation, autosomal dominant 2015 NFIA AD hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defect 2014

NFIX AD Marshall-‐Smith syndrome, 602535 Sotos syndrome 2, 614753

2010

NHS XL-‐D Nance-‐Horan syndrome, 302350 Cataract 40, X-‐linked, 302200

2003

NIPBL AD Cornelia de Lange syndrome 1, 122470 2004 NKX2-‐1

AD

Goiter, familial, due to TTF-‐1 defect (1) Chorea, hereditary benign, 118700 Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978

1998

NLGN3 XL-‐D {Asperger syndrome susceptibility, X-‐linked 1}, 300494 {Autism susceptibility, X-‐linked 1}, 300425

2003

NLGN4 XL-‐D XD 2004 NLRP3

AD

Cold-‐induced autoinflammatory syndrome, familial, 120100 Muckle-‐Wells syndrome, 191900 CINCA syndrome, 607115

2001

NPHP1

AR

hronophthisis 1, juvenile, 256100 Senior-‐Loken syndrome-‐1, 266900 Joubert syndrome 4, 609583

1996

NR2F1 AD Bosch-‐Boonstra-‐Schaaf optic atrophy syndrome, 615722 2009 NRAS

AD

Autoimmune lymphoproliferative syndrome type IV, 614470 Noonan syndrome 6, 613224 Epidermal nevus, somatic, 162900 Thyroid carcinoma, follicular, somatic, 188470 Colorectal cancer, somatic, 114500

2007

NRXN1 AR Pitt-‐Hopkins-‐like syndrome 2, 614325 {Schizophrenia, susceptibility to, 17}, 614332 2008

NSD1

AD

Sotos syndrome 1, 117550 Leukemia, acute myeloid, 601626 (1) Beckwith-‐Wiedemann syndrome, 130650

2002

NSDHL XL-‐R CHILD syndrome, 308050 CK syndrome, 300831

2000

NSUN2 AR Mental retardation, autosomal recessive 5, 611091 2012

NTRK1 AR Insensitivity to pain, congenital, with anhidrosis, 256800 Medullary thyroid carcinoma, familial, 155240

1996

OCLN AR Band-‐like calcification with simplified gyration and polymicrogyria, 251290 2010

OCRL XL-‐R Lowe syndrome, 309000 Dent disease 2, 300555

1988

OFD1

XL-‐D

Oral-‐facial-‐digital syndrome 1, 311200 Simpson-‐Golabi-‐Behmel syndrome, type 2, 300209 Joubert syndrome 10, 300804

2001

OPHN1 XL-‐R Mental retardation, X-‐linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 1997

ORC1 AR Meier-‐Gorlin syndrome 1, 224690 2011 OTC XL-‐R CGD Ornithine transcarbamylase deficiency, 311250 1988 PACS1 AD Mental retardation, autosomal dominant 17, 615009 2012

PAFAH1B1 AD Lissencephaly, 607432 Subcortical laminar heterotopia, 607432 1993

PAH AR Phenylketonuria, 261600 [Hyperphenylalaninemia, non-‐PKU mild], 261600

1985

PAK3 XL-‐R Mental retardation, X-‐linked 30/47, 300558 1998

PANK2 AR Neurodegeneration with brain iron accumulation 1, 234200 HARP syndrome, 607236

2001

PAX1 AR ?Orofaciocervical syndrome 2, 615560 1996




PAX6

AD,AR

Aniridia, 106210 Peters anomaly, 604229 Cataract with late-‐onset corneal dystrophy, 106210 Keratitis, 148190 Foveal hyperplasia, 136520 Morning glory disc anomaly, 120430 Optic nerve hypoplasia, 165550 Coloboma, ocular, 120200 Coloboma of optic nerve, 120430 Gillespie syndrome, 206700

1992

PAX8 AD Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 1998 PC AR Pyruvate carboxylase deficiency, 266150 1998 PCDH19 XL-‐D Epileptic encephalopathy, early infantile, 9, 300088 2008 PCGF2 AD Mental retardation, autosomal dominant 2015 PCNT AR Microcephalic osteodysplastic primordial dwarfism, type II, 210720 2008 PDE4D AD Acrodysostosis 2 with or without hormone resistance 2012

PDHA1 XL-‐D Pyruvate dehydrogenase E1-‐alpha deficiency, 312170 Leigh syndrome, X-‐linked, 308930

1989

PDSS1 AR Coenzyme Q10 deficiency, primary, 2, 614651 2007 PDSS2 AR Coenzyme Q10 deficiency, primary, 3, 614652 2006 PEPD AR Prolidase deficiency, 170100 1990

PEX1 AR Peroxisome biogenesis disorder 1A (Zellweger), 214100 Peroxisome biogenesis disorder 1B (NALD/IRD), 601539

1997

PEX10 AR Peroxisome biogenesis disorder 6A (Zellweger), 614870 Peroxisome biogenesis disorder 6B, 614871

1998

PEX11B AR Peroxisome biogenesis disorder 14B, 614920 2012


1997


1998

PEX16 AR Peroxisome biogenesis disorder 8A, (Zellweger), 614876 Peroxisome biogenesis disorder 8B, 614877

1998

PEX19 AR Peroxisome biogenesis disorder 12A (Zellweger), 614886 1999


1992


2003

PEX3 AR Peroxisome biogenesis disorder 10A (Zellweger), 614882 2000


1995


1996

PEX7 AR Rhizomelic chondrodysplasia punctata, type 1, 215100 Peroxisome biogenesis disorder 9B, 614879

1997

PGAP1 AR Mental retardation, autosomal recessive 42 2014 PGAP2 AR Hyperphosphatasia with mental retardation syndrome 3, 614207 2013 PGAP3 AR Hyperphosphatasia with mental retardation syndrome 4, 615716 (3) 2014 PGK1 XL-‐R Phosphoglycerate kinase 1 deficiency, 300653 1980 PHF6 XL-‐R Borjeson-‐Forssman-‐Lehmann syndrome, 301900 2002 PHF8 XL-‐R Mental retardation syndrome, X-‐linked, Siderius type, 300263 2005 PHGDH AR Phosphoglycerate dehydrogenase deficiency, 601815 2000 PHIP

AD

No OMIM phenotype Glaucoma, primary congenital (Lee (2011) Mol Vis 17,3583) Intellectual disability (de Ligt (2012) N Eng J Med 367,1921)

2011

PIGL AR CHIME syndrome, 280000 2012 PIGN AR Multiple congenital anomalies-‐hypotonia-‐seizures syndrome 1, 614080 2011 PIGO AR Hyperphosphatasia with mental retardation syndrome 2, 614749 2012

PIGT AR ?Multiple congenital anomalies-‐hypotonia-‐seizures syndrome 3, 615398 ?Paroxysmal nocturnal hemoglobinuria 2, 615399 2013

PIGV AR Hyperphosphatasia with mental retardation syndrome 1, 239300 2010 PIK3R2 AD Megalencephaly-‐polymicrogyria-‐polydactyly-‐hydrocephalus syndrome, 603387 2012 PLA2G6

AR

Infantile neuroaxonal dystrophy 1, 256600 Neurodegeneration with brain iron accumulation 2B, 610217 Parkinson disease 14, 612953

2006

PLCB1 AR Epileptic encephalopathy, early infantile, 12, 613722 2010

PLP1 XL-‐R Pelizaeus-‐Merzbacher disease, 312080 Spastic paraplegia 2, X-‐linked, 312920

1989

PMM2 AR Congenital disorder of glycosylation, type Ia, 212065 1997 PNKP AR Epileptic encephalopathy, early infantile, 10, 613402 2010 PNP AR Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 1987 POC1A AR Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 2012 POGZ

AD

Autism (Neale (2012) Nature 485, 242) Intellectual disability (Gilissen (2014) Nature 511, 344) Schizophrenia (Fromer (2014) Nature 506, 179)

2012

POLG AR MR/MITO 2009

POLR3A AR Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694

2011




POLR3B AR Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 2011

POMGNT1

AR

Muscular dystrophy-‐dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 Muscular dystrophy-‐dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 Muscular dystrophy-‐dystroglycanopathy (limb-‐girdle), type C, 3, 613157

2001

POMT1

AR


2002

POMT2

AR


2005

PORCN XL-‐D Focal dermal hypoplasia, 305600 2007 POU1F1 AD, AR Pituitary hormone deficiency, combined, 1, 613038 1992 PPOX AD,AR Porphyria variegata, 176200 1996 PPP2R1A AD Mental retardation, autosomal dominant 36 2015 PPP2R5D AD Mental retardation, autosomal dominant 35 2015 PPT1 AR Ceroid lipofuscinosis, neuronal, 1, 256730 1995 PQBP1 XL-‐R Renpenning syndrome, 309500 2003

PRODH AR Hyperprolinemia, type I, 239500 {Schizophrenia, susceptibility to, 4}, 600850

2002

PRPS1

XL-‐R

Gout, PRPS-‐related, 300661 Phosphoribosylpyrophosphate synthetase superactivity, 300661 Charcot-‐Marie-‐Tooth disease, X-‐linked recessive, 5, 311070 Arts syndrome, 301835 Deafness, X-‐linked 1, 304500

1991

PRSS12 AR Mental retardation, autosomal recessive 1, 249500 2002 PSAP

AR

Metachromatic leukodystrophy due to SAP-‐b deficiency, 249900 Gaucher disease, atypical, 610539 Combined SAP deficiency, 611721 Krabbe disease, atypical, 611722

1990

PSEN1

AD

Acne inversa, familial, 3, 613737 Alzheimer disease, type 3, 607822 Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 Cardiomyopathy, dilated, 1U, 613694 Dementia, frontotemporal, 600274 Pick disease, 172700

1995

PTCH1

AD

Basal cell nevus syndrome, 109400 Basal cell carcinoma, somatic, 605462 Holoprosencephaly-‐7, 610828

1996

PTDSS1 AD Lenz-‐Majewski hyperostotic dwarfism, 151050 2014 PTEN

AD

Cowden syndrome 1, 158350 Lhermitte-‐Duclos syndrome, 158350 Bannayan-‐Riley-‐Ruvalcaba syndrome, 153480 {Meningioma}, 607174 {Glioma susceptibility 2}, 613028 Macrocephaly/autism syndrome, 605309 PTEN hamartoma tumor syndrome VATER association with macrocephaly and ventriculomegaly, 276950 {Prostate cancer, somatic}, 176807 Thyroid carcinoma, follicular, somatic, 188470 Malignant melanoma, somatic, 155600 Endometrial carcinoma, somatic, 608089 Squamous cell carcinoma, head and neck, somatic, 275355

1997

PTPN11

AD

Noonan syndrome 1, 163950 LEOPARD syndrome 1, 151100 Leukemia, juvenile myelomonocytic, 607785 Metachondromatosis, 156250

2001

PUF60 AD Verheij syndrome, 615583 (3) 2013 PURA AD Mental retardation, autosomal dominant 31, 616158 2013 PUS1 AR Mitochondrial myopathy and sideroblastic anemia 1, 600462 2004

PYCR1 AR Cutis laxa, autosomal recessive, type IIB, 612940 Cutis laxa, autosomal recessive, type IIIB, 614438

2009

RAB18 AR Warburg micro syndrome 3, 614222 2011 RAB27A AR Griscelli syndrome, type 2, 607624 2000 RAB39B XL-‐R Mental retardation, X-‐linked 72, 300271 2010 RAB3GAP1 AR Warburg micro syndrome 1, 600118 2005

RAB3GAP2 AR Martsolf syndrome, 212720 Warburg micro syndrome 2, 614225

2006

RAB40AL XL-‐R Mental retardation, X-‐linked, syndromic, Martin-‐Probst type, 300519 2012 RAD21 AD Cornelia de Lange syndrome 4, 614701 2012

RAF1 AD Noonan syndrome 5, 611553 LEOPARD syndrome 2, 611554

2006




RAI1 AD Immunodeficiency 9, 612782 Smith-‐Magenis syndrome, 182290 2003

RARS2 AR Pontocerebellar hypoplasia, type 6, 611523 2007 RBM10 XL-‐R TARP syndrome, 311900 2010 RBM28 AR Alopecia, neurologic defects, and endocrinopathy syndrome, 612079 2008 RELN AR Lissencephaly 2 (Norman-‐Roberts type), 257320 2000 RFT1 AR Congenital disorder of glycosylation, type In, 612015 2008 RIT1 AD Noonan syndrome 8, 615355 2013 RMND1 AR Combined oxidative phosphorylation deficiency 11, 614922 2012 RMRP AR Metaphyseal dysplasia without hypotrichosis 2002 RNASEH2A AR Aicardi-‐Goutieres syndrome 4, 610333 2006 RNASEH2B AR Aicardi-‐Goutieres syndrome 2, 610181 2006 RNASEH2C AR Aicardi-‐Goutieres syndrome 3, 610329 2006 RNASET2 AR Leukoencephalopathy, cystic, without megalencephaly, 612951 2009 ROGDI AR Kohlschutter-‐Tonz syndrome, 226750 2012 RPGRIP1L

AR

Joubert syndrome 7, 611560 Meckel syndrome 5, 611561 COACH syndrome, 216360

2007

RPL10 XL-‐D {Autism, susceptibility to, X-‐linked 5}, 300847 2006

RPS6KA3 XL-‐D Coffin-‐Lowry syndrome, 303600 Mental retardation, X-‐linked 19, 300844

1996

RTEL1 AD, AR Dyskeratosis congenita, autosomal dominant 4, 615190 Dyskeratosis congenita, autosomal recessive 5, 615190

2013

SALL1 AD Townes-‐Brocks syndrome, 107480 Townes-‐Brocks branchiootorenal-‐like syndrome, 107480

1998

SATB2 AD Cleft palate and mental retardation, 119540 1999 SC5DL AR Lathosterolosis 2002 SCN1A

AD

Epilepsy, generalized, with febrile seizures plus, type 2, 604403 Dravet syndrome, 607208 Migraine, familial hemiplegic, 3, 609634 Febrile seizures, familial, 3A, 604403

2000

SCN2A AD Seizures, benign familial infantile, 3, 607745 Epileptic encephalopathy, early infantile, 11, 613721

2001

SCN8A AD Cognitive impairment with or without cerebellar ataxia, 614306 Epileptic encephalopathy, early infantile, 13, 614558

2006

SCO2 AR Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 Myopia 6, 608908

1999

SDHA

AR

Leigh syndrome, 256000 Mitochondrial respiratory chain complex II deficiency, 252011 Cardiomyopathy, dilated, 1GG, 613642 Paragangliomas 5, 614165

1995

SERAC1 AR 3-‐methylglutaconic aciduria with deafness, encephalopathy, and Leigh-‐like syndrome, 614739 2012 SETBP1 AD Schinzel-‐Giedion midface retraction syndrome, 269150 2007 SETD5

AD

No OMIM phenotype Autism (Neale (2012) Nature 485, 242) Intellectual disability (Grozeva (2014) Am J Hum Genet 94, 618)

2012

SGSH AR Mucopolysaccharidisis type 3A (Sanfilippo A), 252900 1995 SHANK2 AD {Autism susceptibility 17}, 613436 2009

SHANK3 AD Phelan-‐McDermid syndrome, 606232 {Schizophrenia 15}, 613950

2001

SHH

AD

Holoprosencephaly-‐3, 142945 Single median maxillary central incisor, 147250 Microphthalmia with coloboma 5, 611638 Schizencephaly, 269160

1996

SHOC2 AD Noonan-‐like syndrome with loose anagen hair, 607721 2009 SHROOM4 XL-‐R Stocco dos Santos X-‐linked mental retardation syndrome, 300434 2006 SIL1 AR Marinesco-‐Sjogren syndrome, 248800 2005 SIN3A AD Mental retardation, autosomal dominant 2015

SIX3 AD Holoprosencephaly-‐2, 157170 Schizensephaly, 269160

1999

SKI AD Shprintzen-‐Goldberg syndrome, 182212 2005 SLC12A6 AR Agenesis of the corpus callosum with peripheral neuropathy, 218000 2002 SLC16A2 XL-‐R Allan-‐Herndon-‐Dudley syndrome, 300523 2004

SLC17A5 AR Salla disease, 604369 Sialic acid storage disorder, infantile, 269920

1999

SLC1A1 AR Dicarboxylic aminoaciduria, 222730 {?Schizophrenia susceptibility 18}, 615232

2010

SLC1A4 AR No OMIM phenotype 2015 SLC25A15 AR Hyperornithinemia-‐hyperammonemia-‐homocitrullinemia syndrome, 238970 1999 SLC25A22 AR Epileptic encephalopathy, early infantile, 3, 609304 2005 SLC2A1

AD

GLUT1 deficiency syndrome 1, 606777 GLUT1 deficiency syndrome 2, 612126 {Epilepsy, idiopathic generalized, suscpetibility to, 12}, 614847 Dystonia 9, 601042

1998

SLC33A1 AR Spastic paraplegia 42, autosomal dominant, 612539 Congenital cataracts, hearing loss, and neurodegeneration, 614482

2008

SLC35A2 XL-‐D Congenital disorder of glycosylation, type 2m, 300896 2013




SLC35C1 AR Congenital disorder of glycosylation, type IIc, 266265 2001 SLC4A4 AR Renal tubular acidosis, proximal, with ocular abnormalities, 604278 1999 SLC6A17 AR Mental retardation, autosomal recessive 48 2015

SLC6A3 AR Parkinsonism -‐dystonia, infantile, 613135 {Nicotine dependence, protection against}, 188890 1995

SLC6A8 XL-‐R Cerebral creatine deficiency syndrome 1, 300352 2001 SLC7A7 AR Lysinuric protein intolerance, 222700 1999 SLC9A6 XL-‐R Mental retardation, X-‐linked syndromic, Christianson type, 300243 2008 SMAD4

AD

Pancreatic cancer Polyposis, juvenile intestinal, 174900 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 Myhre syndrome, 139210

1998

SMARCA2 AD Nicolaides-‐Baraitser syndrome, 601358 2009

SMARCA4 AD Rhabdoid tumor predisposition syndrome 2, 613325 Mental retardation, autosomal dominant 16, 614609

2010

SMARCB1

AD

Rhabdoid tumors, somatic, 609322 Rhabdoid predisposition syndrome 1, 609322 Mental retardation, autosomal dominant 15, 614608

1999

SMARCC2

AD

No OMIM phenotype Autism (Neale (2012) Nature 485,242) Ivemark syndrome (Carss (2014) Hum Mol Genet 23, 3269)

2012

SMARCE1 AD Coffin siris syndrome 2013 SMC1A xl-‐D/R Cornelia de Lange syndrome 2, 300590 2005 SMC3 AD Cornelia de Lange syndrome 3, 610759 2007 SMOC1 AR Microphthalmia with limb anomalies, 206920 2011

SMPD1 AR Niemann-‐Pick disease, type A, 257200 Niemann-‐Pick disease, type B, 607616

1991

SMS XL-‐R Mental retardation, X-‐linked, Snyder-‐Robinson type, 309583 2003 SNAP29 AR Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 2001 SNIP1 AR Psychomotor retardation, epilepsy and craniofacial dysmorphism, 614501 2012 SNX14 AR Spinocerebellar ataxia, atosomal recessive 20, 616354 2014 SOBP AR Mental retardation, anterior maxillary protrusion, and strabismus, 613671 2010

SOS1 AD Fibromatosis, gingival, 135300 Noonan syndrome 4, 610733

2002

SOX10

AD

Waardenburg syndrome, type 4C, 613266 Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 PCWH syndrome, 609136

1998

SOX11 AD Mental retardation, autosomal dominant 27 2014

SOX2 AD Microphthalmia, syndromic 3, 206900 Optic nerve hypoplasia and abnormalities of the central nervous system, 206900

2003

SOX3 XL-‐R Mental retardation, X-‐linked, with isolated growth hormone deficiency, 300123 Panhypopituitarism, X-‐linked, 312000

2002

SOX5 AD Mental retardation, autosomal dominant, with language delay 2015 SPG11 AR Spastic paraplegia 11, autosomal recessive, 604360 2007 SPRED1 AD Legius syndrome, 611431 2007 SPTAN1 AD Encephalopathy 2010 SRCAP AD Floating-‐Harbor syndrome, 136140 2012

SRD5A3 AR Congenital disorder of glycosylation, type Iq, 612379 Kahrizi syndrome, 612713

2010

SRPX2 XL-‐D Rolandic epilepsy, mental retardation, and speech dyspraxia, 300643 2006

ST3GAL3 AR Mental retardation, autosomal recessive 12, 611090 Epileptic encephalopathy, early infantile, 15, 615006

2011

ST3GAL5 AR Amish infantile epilepsy syndrome, 609056 2004 STAG1

AD

No OMIM phenotype Intellectual disability, nonsyndromic (Rauch (2012) Lancet epub) Intellectual disability (Gilissen (2014) Nature 511,344)

2012

STIL AR Microcephaly 7, primary, autosomal recessive, 612703 2009

STRA6 AR Microphthalmia, syndromic 9, 601186 Microphthalmia, isolated, with coloboma 8, 601186

2007

STT3A AR ?Congenital disorder of glycosylation, type Iw, 615596 2013 STT3B AR ?Congenital disorder of glycosylation, type Ix, 615597 2013 STXBP1 AD Epileptic encephalopathy, early infantile, 4, 612164 2008

SUCLA2 AR Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 2005

SUOX AR Sulfite oxidase deficiency, 272300 1996 SURF1 AR Leigh syndrome, due to COX deficiency, 256000 1998 SYN1 XL-‐R Epilepsy, X-‐linked, with variable learning disabilities and behavior disorders, 300491 2004 SYNE1 AD/AR Emery-‐Dreifuss muscular dystrophy 4 autosomal dominant 2013 SYNGAP1 AD Mental retardation, autosomal dominant 5, 612621 2009 SYP XL-‐R Mental retardation, X-‐linked 96, 300802 2009 SYT14 AR Spinocerebellar ataxia, autosomal recessive 11, 614229 2007 TAF2 AR Mental retardation, autosomal recessive 40, 615599 2011 TAT AR Tyrosinemia, type II, 276600 1987

TBC1D24 AR Myoclonic epilepsy, infantile, familial, 605021 Epileptic encephalopathy, early infantile, 16, 615338

2010

TBC1D7 AR Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 2013




TBCE AR Kenny-‐Caffey syndrome-‐1, 244460 Hypoparathyroidism-‐retardation-‐dysmorphism syndrome, 241410

2002

TBR1 AD ASD/ID 2012 TCF4 AD Pitt-‐Hopkins syndrome, 610954 2007 TECR AR Mental retardation, autosomal recessive 14, 614020 2011 TFAP2A AD Branchiooculofacial syndrome, 113620 2000 TGFBR1

AD

Loeys-‐Dietz syndrome, type 1A, 609192 Loeys-‐Dietz syndrome, type 2A, 608967 {Multiple self-‐healing squamous epithelioma, susceptiblity to}, 132800

2004

TGFBR2

AD

Colorectal cancer, hereditary nonpolyposis, type 6, 614331 Esophageal cancer, somatic, 133239 Loeys-‐Dietz syndrome, type 1B, 610168 Loeys-‐Dietz syndrome, type 2B, 610380

1998

TGIF1 AD Holoprosencephaly-‐4 2000 THOC6 AR Beaulieu-‐Boycott-‐Innes syndrome, 613680 2013 THRB

AD,AR

Thyroid hormone resistance, 188570 Thyroid hormone resistance, autosomal recessive, 274300 Thyroid hormone resistance, selective pituitary, 145650

1990

TIMM8A

XL-‐R

Deafness, X-‐linked 1, progressive Mohr-‐Tranebjaerg syndrome, 304700 Jensen syndrome, 311150

1996

TMCO1 AR Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 614132 2010 TMEM165 AR Congenital disorder of glycosylation, type IIk, 614727 2012

TMEM231 AR Joubert syndrome 20, 614970 Meckel syndrome, type 11, 615397

2012

TMEM237 AR Joubert syndrome 14, 614424 2011 TMEM67

AR

Meckel syndrome 3, 607361 Joubert syndrome 6, 610688 {Bardet-‐Biedl syndrome 14, modifier of}, 209900 COACH syndrome, 216360 Nephronophthisis 11, 613550

2006

TMLHE XL-‐D Epsilon-‐trimethyllysine hydrolylase deficiency, 300872 2011 TPP1 AR Ceroid lipofuscinosis, neuronal, 2, 204500 1997 TRAPPC11 AR Muscular dystrophy limb-‐girdle type 2S 2013 TRAPPC9 AR Mental retardation, autosomal recessive 13, 613192 2009 TREX1

AR

Aicardi-‐Goutieres syndrome 1, dominant and recessive, 225750 Chilblain lupus, 610448 Vasculopathy, retinal, with cerebral leukodystrophy, 192315 {Systemic lupus erythematosus, susceptibility to}, 152700

2006

TRIM3 AR ?Bardet-‐Biedl syndrome 11, 615988 Muscular dystrophy, limb-‐girdle, type 2H, 254110

2002

TRIO

AD

No OMIM phenotype Intellectual disability (de Ligt (2012) N Eng J Med 367,1921) Autism (Sanders (2012) Nature 485, 237)

2012

TRMT10A AR Microcephaly, short stature and impaired glucose metabolism, 616033 2013 TSC1

AD

Tuberous sclerosis-‐1, 191100 Lymphangioleiomyomatosis, 606690 Focal cortical dysplasia, Taylor balloon cell type, 607341

1997

TSC2 AD Tuberous sclerosis-‐2, 613254 Lymphangioleiomyomatosis, somatic, 606690

1993

TSEN54 AR Pontocerebellar hypoplasia type 2A, 277470 Pontocerebellar hypoplasia type 4, 225753 2008

TSPAN7 XL-‐R Mental retardation, X-‐linked 58, 300210 2000

TTC8 AR Bardet-‐Biedl syndrome 8, 209900 Retinitis pigmentosa 51, 613464

2003

TTI2 AR Mental retardation, autosomal recessive 39, 615541 2011 TUBA1A AD Lissencephaly 3, 611603 2007 TUBA8 AR Polymicrogyria with optic nerve hypoplasia, 613180 2009 TUBB2B AD Polymicrogyria, symmetric or asymmetric, 610031 2009 TUBGCP6 AR Microcephaly and chorioretinopathy, autosomal recessive 1, 251270 2012 TUSC3 AR Mental retardation, autosomal recessive 7, 611093 2008 TWIST1

AD

Craniosynostosis, type 1, 123100 Robinow-‐Sorauf syndrome, 180750 Saethre-‐Chotzen syndrome, 101400 Saethre-‐Chotzen syndrome with eyelid anomalies, 101400

1994

UBE2A XL-‐R Mental retardation, X-‐linked syndromic, Nascimento-‐type, 300860 2006 UBE3A AD Angelman syndrome, 105830 1997 UBE3B AR Blepharophimosis-‐ptosis-‐intellectual disability syndrome, 615057 2012 UBR1 AR Johanson-‐Blizzard syndrome, 243800 2005 UPB1 AR Beta-‐ureidopropionase deficiency, 613161 2000 UPF3B XL-‐R Mental retardation, X-‐linked, syndromic 14, 300676 2007 USP9X XL-‐D Mental retardation, X-‐linked 99, 300919 2009 USP9X XL-‐D Mental retardation, X-‐linked 99, 300919 (3) 2014 VLDLR AR Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 2008 VPS13B AR Cohen syndrome, 216550 2003 VRK1 AR Pontocerebellar hypoplasia type 1A, 607596 2009 WAC AD in house mutation 2012




WDR19 AD Asphyxiating thoracic dystrophy 5 2011 WDR45 XL-‐D Neurodegeneration with brain iron accululation 5, 300894 2012 WDR62 AR Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 2010 WDR81 AR Cerebellar ataxia mental retardation and dysequilibrium syndrome 2 2011 WWOX AR Cerebellar ataxia with epilepsy & mental retardation 2013 XPA AR Xeroderma pigmentosum, group A, 278700 1990 XPNPEP3 AR Nephronophthisis-‐like nephropathy 1, 613159 2010

XYLT1 AR Desbuquois dysplasia 2, 615777 {Pseudoxanthoma elasticum, modifier of severity of}, 264800

2006

YAP1 AD Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, 120433 (3) 2014 YWHAE

AD

Miller-‐Dieker Lissencephaly syndrome, 247200 Chromosome 17p13.3, centromeric, duplication syndrome, 613215 Lissenencephaly, 607432 Chromsome 17p13.3, telomeric duplication syndrome 612576

2013

YY1 AD No OMIM phenotype Mental retardation (Vissers (2010) Nat Genet 42, 1109) 2010

ZBTB16 AR Leukemia, acute promyelocytic, PL2F/RARA type Skeletal defects, genital hypoplasia, and mental retardation, 612447

2008

ZBTB18 AD ?Mental retardation, autosomal dominant 22, 612337 2008 ZDHHC15 XL-‐D ?Mental retardation, X-‐linked 91, 300577 2005 ZDHHC9 XL-‐R Mental retardation, X-‐linked syndromic, Raymond type, 300799 2007 ZEB2 AD Mowat-‐Wilson syndrome, 235730 2001 ZFYVE26 AR Spastic paraplegia 15, autosomal recessive, 270700 2008 ZIC2 AD Holoprosencephaly-‐5, 609637 1998 ZMYND11 AD Mental retardation, autosomal dominant 30, 616083 2012 ZNF292

AD

No OMIM phenotype Autism (Neale (2012) Nature 485,242) Potential protein deficiency (de Ligt (2012) N Engl J Med 367,1921)

2012

ZNF41 XL-‐R Mental retardation, X-‐linked 89, 300848 2003 ZNF592 AR Spinocerebellar ataxia, autosomal recessive 5, 606937 2003 ZNF674 XL-‐R Mental retardation, X-‐linked 92, 300851 2006 ZNF711 XL-‐R Mental retardation, X-‐linked 97, 300803 2009 ZNF81 XL-‐R Mental retardation, X-‐linked 45, 300498 2004

Gene list consists of "Intellectual Disability Gene Panel" (v.DGD141114) used at the Dept. of Human Genetics of the Radboudumc, Nijmegen, The Netherlands, supplemented with genes involved in ID recently published in literature. Updates for the diagnostic ID gene panel will be published on https://www.radboudumc.nl/Informatievoorverwijzers/Genoomdiagnostiek/en/Pages/Intellectualdisability.aspx

Gene symbols used follow HGCN guidelines Genomics 79(4): 464-‐470 (2002) updated February 2014

Inheritance: AD,, autosomal dominant; AR,, autosomal recessive; XL-‐R,, X-‐linked recessive; XL-‐D,, X-‐linked dominant

OMIM release used for OMIM disease identifiers and descriptions: 31 October 2014, with updates from 21 August 2015 ‘No OMIM phenotype' signifies a gene without a current OMIM association; OMIM phenotypic descriptions between {} signify risk factor.



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SUPPLEMENTARY INFORMATION In format provided by VissersIn format provided by Vissers et al. (JANUARY 2016) Supplementary information S1 (table): Genes linked to isolated ID and ID-‐associated