Intellectual disability/Epilepsy (1091 genes) - ULG

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Intellectual disability/Epilepsy (1091 genes) - ULG
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https://www.chuliege.be/upload/docs/application/pdf/2022-08/annexe_6_hmg.neuro_twist.ana_panel_div5_metrics.pdf
Type of panel:
Provider:
Twist Biosciences
Version number:
V5
Laboratory:
Created:
12 Jul 2019 - 11:13
Changed:
12 Oct 2022 - 10:18
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
A2ML1 99.35 0 Vissers et al., EJHG 2015 : Noonan syndrome
ABCC9 99.41 0 Hypertrichotic osteochondrodysplasia
ABCD1 99.49 0 Adrenoleukodystrophy
ABHD5 98.48 0 Chanarin-Dorfman syndrome
ACAD9 99.57 0 Mitochondrial complex I deficiency due to ACAD9 deficiency
ACO2 99.66 0 Infantile cerebellar-retinal degeneration
ACOX1 99.49 0 Peroxisomal acyl-CoA oxidase deficiency
ACSL4 91.09 0 Mental retardation, X-linked 63
ACTB 99.34 0 Baraitser-Winter syndrome 1
ACTG1 99.69 0 Baraitser-Winter syndrome 2
ACY1 99.67 0 Aminoacylase 1 deficiency
ADAR 99.45 0 Aicardi-Goutieres syndrome 6
ADAT3 81.40 0 Mental retardation, autosomal recessive 36
ADGRG1 99.67 0 Polymicrogyria, bilateral frontoparietal
ADK 98.74 0 Hypermethioninemia due to adenosine kinase deficiency
ADNP 99.55 0 Helsmoortel-van der Aa syndrome
ADSL 99.58 0 Adenylosuccinase deficiency
AFF2 90.80 0 Mental retardation, X-linked, FRAXE type
AFG2A 98.88 0 Epilepsy, hearing loss, and mental retardation syndrome
AGA 99.60 0 Aspartylglucosaminuria
AGPAT2 91.26 0 Lipodystrophy, congenital generalized, type 1
AHCY 99.67 0 Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
AHDC1 99.68 0 Xia-Gibbs syndrome
AHI1 99.05 0 Joubert syndrome 3
AIMP1 96.88 0 Leukodystrophy, hypomyelinating, 3
AKT3 98.82 0 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
ALDH18A1 99.66 0 Cutis laxa, autosomal recessive, type IIIA
ALDH3A2 99.31 0 Sjogren-Larsson syndrome
ALDH4A1 96.44 0 Hyperprolinemia, type II
ALDH5A1 93.04 0 Succinic semialdehyde dehydrogenase deficiency
ALDH7A1 99.00 0 Epilepsy, pyridoxine-dependent
ALG1 99.43 0 Congenital disorder of glycosylation, type Ik
ALG11 99.57 0 Congenital disorder of glycosylation, type Ip
ALG12 99.69 0 Congenital disorder of glycosylation, type Ig
ALG13 92.88 0 Epileptic encephalopathy, early infantile, 36
ALG2 97.14 0 Myasthenic syndrome, congenital, 14, with tubular aggregates
ALG3 99.59 0 Congenital disorder of glycosylation, type Id
ALG6 98.36 0 Congenital disorder of glycosylation, type Ic
ALG9 96.33 0 Gillessen-Kaesbach-Nishimura syndrome
ALMS1 98.27 0 Alstrom syndrome
ALX1 99.52 0 Frontonasal dysplasia 3
ALX4 99.07 0 Frontonasal dysplasia 2
AMER1 99.96 0 Osteopathia striata with cranial sclerosis
AMPD2 99.69 0 Pontocerebellar hypoplasia, type 9
AMT 99.69 0 Glycine encephalopathy
ANK3 99.47 0 Mental retardation, autosomal recessive, 37
ANKH 99.64 0 Craniometaphyseal dysplasia
ANKRD11 99.68 0 KBG syndrome
AP1S1 99.50 0 MEDNIK syndrome
AP1S2 88.78 0 Mental retardation, X-linked syndromic 5
AP4B1 99.61 0 Spastic paraplegia 47, autosomal recessive
AP4M1 99.68 0 Spastic paraplegia 50, autosomal recessive
AP4S1 99.48 0 Spastic paraplegia 52, autosomal recessive
APTX 99.02 0 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
ARCN1 99.27 0 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
ARFGEF2 99.31 0 Periventricular heterotopia with microcephaly
ARG1 99.53 0 Argininemia
ARHGAP31 99.60 0 Adams-Oliver syndrome 1
ARHGEF2 99.64 0 Neurodevelopmental disorder with midbrain and hindbrain malformations
ARHGEF9 97.26 0 Epileptic encephalopathy, early infantile, 8
ARID1A 97.02 0 Coffin-Siris syndrome 2
ARID1B 97.57 0 Coffin-Siris syndrome 1
ARID2 99.33 0 Coffis-Siris syndrome 6
ARL13B 98.36 0 Joubert syndrome 8
ARL6 99.09 0 Bardet-Biedl syndrome 3
ARSL 90.38 0 Chondrodysplasia punctata, X-linked recessive
ARX 65.25 0 Mental retardation, X-linked 29 and others
ASH1L 99.53 0 Okamoto et al., AJMG 2017 : MCA/ID syndrome
ASNS 99.42 0 Asparagine synthetase deficiency
ASPA 99.17 0 Canavan disease
ASPM 98.50 0 Microcephaly 5, primary, autosomal recessive
ASXL1 95.03 0 Bohring-Opitz syndrome
ASXL3 98.20 0 Bainbridge-Ropers syndrome
ATIC 96.73 0 AICA-ribosiduria due to ATIC deficiency
ATP6V0A2 99.12 0 Cutis laxa, autosomal recessive, type IIA
ATP7A 94.32 0 Menkes disease
ATR 99.17 0 Seckel syndrome 1
ATRIP 95.19 0 Ogi et al., PLoS Genet 2012 : Seckel syndrome
ATRX 92.10 0 Mental retardation-hypotonic facies syndrome, X-linked
AUH 96.75 0 3-methylglutaconic aciduria, type I
AUTS2 97.55 0 Mental retardation, autosomal dominant 26
B3GLCT 92.21 0 Peters-plus syndrome
B4GALT1 98.41 0 Congenital disorder of glycosylation, type IId
B4GALT7 83.36 0 Ehlers-Danlos syndrome with short stature and limb anomalies
BBIP1 99.64 0 Bardet-Biedl syndrome 18
BBS1 99.66 0 Bardet-Biedl syndrome 1
BBS10 99.57 0 Bardet-Biedl syndrome 10
BBS12 99.52 0 Bardet-Biedl syndrome 12
BBS2 99.32 0 Bardet-Biedl syndrome 2
BBS4 99.49 0 Bardet-Biedl syndrome 4
BBS5 98.49 0 Bardet-Biedl syndrome 5
BBS7 99.00 0 Bardet-Biedl syndrome 7
BBS9 98.68 0 Bardet-Biedl syndrome 9
BCKDHB 98.82 0 Maple syrup urine disease, type Ib
BCL11A 99.16 0 Dias-Logan syndrome
BCOR 96.85 0 Microphthalmia, syndromic 2
BCS1L 99.69 0 Leigh syndrome
BLM 99.07 0 Bloom syndrome
BRAF 94.78 0 Noonan syndrome 7
BRPF1 99.67 0 Intellectual developmental disorder with dysmorphic facies and ptosis
BRWD3 93.74 0 Mental retardation, X-linked 93
BSCL2 99.67 0 Encephalopathy, progressive, with or without lipodystrophy
BTD 99.68 0 Biotinidase deficiency
BUB1B 99.40 0 Mosaic variegated aneuploidy syndrome 1
C12ORF57 99.69 0 Platzer et al., AJMG 2014 : RM, hypoplasie corps caleux, colobome, épilepsie.
C19ORF12 99.69 0 Neurodegeneration with brain iron accumulation 4
C2CD3 99.44 0 Orofaciodigital syndrome XIV
CA8 99.19 0 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
CACNA1A 99.12 0 Epileptic encephalopathy, early infantile, 42
CACNA1C 99.65 0 Timothy syndrome
CACNA1D 99.50 0 Primary aldosteronism, seizures, and neurologic abnormalities
CAMK2A 99.67 0 Mental retardation, autosomal dominant 53
CAMK2B 96.34 0 Mental retardation, autosomal dominant 54
CANT1 99.60 0 Desbuquois dysplasia 1
CASK 95.36 0 Mental retardation and microcephaly with pontine and cerebellar hypoplasia
CAV1 99.67 0 Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
CAVIN1 99.31 0 Lipodystrophy, congenital generalized, type 4
CBL 99.54 0 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
CBS 99.69 0 Homocystinuria, B6-responsive and nonresponsive types
CC2D1A 99.64 0 Mental retardation, autosomal recessive 3
CC2D2A 99.11 0 Joubert syndrome 9
CCDC22 99.91 0 Ritscher-Schinzel syndrome 2
CCDC39 98.07 0 Ciliary dyskinesia, primary, 14
CCDC78 99.69 0 Myopathy, centronuclear, 4
CCDC88C 99.38 0 Hydrocephalus, nonsyndromic, autosomal recessive
CD96 99.13 0 C syndrome
CDC45 99.57 0 Meier-Gorlin syndrome 7
CDC6 99.32 0 Meier-Gorlin syndrome 5
CDH15 96.19 0 Mental retardation, autosomal dominant 3
CDK13 95.39 0 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
CDK5RAP2 99.45 0 Microcephaly 3, primary, autosomal recessive
CDKL5 87.62 0 Epileptic encephalopathy, early infantile, 2
CDON 98.90 0 Holoprosencephaly 11
CDT1 89.72 0 Meier-Gorlin syndrome 4
CENPJ 99.19 0 Microcephaly 6, primary, autosomal recessive
CEP135 97.81 0 Microcephaly 8, primary, autosomal recessive
CEP152 98.40 0 Microcephaly 9, primary, autosomal recessive
CEP290 97.64 0 Joubert syndrome 5
CEP41 99.07 0 Joubert syndrome 15
CEP57 99.09 0 Mosaic variegated aneuploidy syndrome 2
CEP63 99.06 0 Seckel syndrome 6
CERT1 99.15 0 Mental retardation, autosomal dominant 34
CHAMP1 99.63 0 Mental retardation, autosomal dominant 40
CHAT 97.70 0 Myasthenic syndrome, congenital, 6, presynaptic
CHD2 99.18 0 Epileptic encephalopathy, childhood-onset
CHD4 99.65 0 Sifrim-Hitz-Weiss syndrome
CHD7 99.53 0 CHARGE syndrome
CHD8 99.58 0 Autism, susceptibility to, 18
CHKB 97.97 0 Muscular dystrophy, congenital, megaconial type
CHMP1A 99.59 0 Pontocerebellar hypoplasia, type 8
CHRNA4 90.96 0 Epilepsy, nocturnal frontal lobe, 1
CHRND 99.68 0 Myasthenic syndrome, congenital, 3B, fast-channel
CISD2 98.61 0 Wolfram syndrome 2
CLCN4 99.27 0 Mental retardation, X-linked 49/15
CLN3 99.69 0 Ceroid lipofuscinosis, neuronal, 3
CLN5 97.69 0 Ceroid lipofuscinosis, neuronal, 5
CLN6 85.06 0 Ceroid lipofuscinosis, neuronal, 6
CLN8 99.69 0 Ceroid lipofuscinosis, neuronal, 8
CLP1 99.68 0 Pontocerebellar hypoplasia, type 10
CLPB 99.62 0 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia
CNKSR2 91.50 0 Houge et al., Mol Syndromol 2012 : ID
CNTNAP2 99.39 0 Pitt-Hopkins like syndrome 1
COASY 99.68 0 Neurodegeneration with brain iron accumulation 6
COG1 98.34 0 Congenital disorder of glycosylation, type IIg
COG5 99.11 0 Congenital disorder of glycosylation, type IIi
COG6 98.39 0 Congenital disorder of glycosylation, type IIl
COG7 99.66 0 Congenital disorder of glycosylation, type IIe
COG8 97.38 0 Congenital disorder of glycosylation, type IIh
COL4A1 97.86 0 Porencephaly 1
COL4A2 99.62 0 Porencephaly 2
COLEC10 99.16 0 Mental retardation, autosomal dominant 34
COLEC11 99.67 0 3MC syndrome 2
COQ2 94.52 0 Coenzyme Q10 deficiency, primary, 1
COQ4 98.74 0 Coenzyme Q10 deficiency, primary, 7
COQ6 99.60 0 Coenzyme Q10 deficiency, primary, 6
COQ7 99.40 0 Coenzyme Q10 deficiency, primary, 8
COQ8A 99.69 0 Coenzyme Q10 deficiency, primary, 4
COQ9 98.23 0 Coenzyme Q10 deficiency, primary, 5
COX10 99.65 0 Leigh syndrome due to mitochondrial COX4 deficiency
CPLANE1 98.89 0 Joubert syndrome 17
CRADD 99.63 0 Mental retardation, autosomal recessive 34, with variant lissencephaly
CRBN 98.86 0 Mental retardation, autosomal recessive 2
CREBBP 99.62 0 Rubinstein-Taybi syndrome 1
CRPPA 92.51 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
CSNK2A1 99.32 0 Okur-Chung neurodevelopmental syndrome
CSPP1 98.95 0 Joubert syndrome 21
CTC1 99.57 0 Cerebroretinal microangiopathy with calcifications and cysts
CTCF 99.65 0 Mental retardation, autosomal dominant 21
CTNNB1 99.65 0 Mental retardation, autosomal dominant 19
CTSA 99.59 0 Galactosialidosis
CTSD 94.51 0 Ceroid lipofuscinosis, neuronal, 10
CUL4B 84.65 0 Mental retardation, X-linked, syndromic 15 (Cabezas type)
CYB5R3 88.44 0 Methemoglobinemia, type I
CYP27A1 97.94 0 Cerebrotendinous xanthomatosis
D2HGDH 98.50 0 D-2-hydroxyglutaric aciduria
DAG1 99.69 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
DARS2 99.20 0 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
DCAF17 93.81 0 Woodhouse-Sakati syndrome
DCC 99.55 0 Mirror movements 1 and/or agenesis of the corpus callosum
DCPS 99.69 0 Al-Raqad syndrome
DCX 96.94 0 Lissencephaly, X-linked
DDB2 99.69 0 Xeroderma pigmentosum, group E, DDB-negative subtype
DDHD2 97.74 0 Spastic paraplegia 54, autosomal recessive
DDX11 99.66 0 Warsaw breakage syndrome
DDX3X 96.52 0 Mental retardation, X-linked 102
DEAF1 92.63 0 Mental retardation, autosomal dominant 24
DHCR24 99.34 0 Desmosterolosis
DHCR7 99.68 0 Smith-Lemli-Opitz syndrome
DHFR 98.50 0 Megaloblastic anemia due to dihydrofolate reductase deficiency
DHX30 99.51 0 Lessel et al., AJHG 2017 : global developmental delay (GDD), intellectual disability (ID), severe speech impairment and gait abnormalities.
DIAPH1 95.85 0 Seizures, cortical blindness, microcephaly syndrome
DKC1 91.60 0 Dyskeratosis congenita, X-linked
DLD 99.08 0 Dihydrolipoamide dehydrogenase deficiency
DLG3 98.91 0 Mental retardation, X-linked 90
DLL4 99.61 0 Adams-Oliver syndrome 6
DNAJC19 97.60 0 3-methylglutaconic aciduria, type V
DNM1 96.84 0 Epileptic encephalopathy, early infantile, 31
DNMT3A 99.69 0 Tatton-Brown-Rahman syndrome
DNMT3B 99.69 0 Immunodeficiency-centromeric instability-facial anomalies syndrome 1
DOCK6 97.92 0 Adams-Oliver syndrome 2
DOCK8 99.24 0 Hyper-IgE recurrent infection syndrome, autosomal recessive
DPAGT1 99.68 0 Congenital disorder of glycosylation, type Ij
DPH1 99.67 0 Developmental delay with short stature, dysmorphic features, and sparse hair
DPM1 99.27 0 Congenital disorder of glycosylation, type Ie
DPP6 99.57 0 Mental retardation, autosomal dominant 33
DSCAM 99.29 0 Wang et al., Nat Commun 2016 : Autisme
DYNC1H1 99.50 0 Mental retardation, autosomal dominant 13
DYRK1A 99.53 0 Mental retardation, autosomal dominant 7
EARS2 99.64 0 Combined oxidative phosphorylation deficiency 12
EBF3 98.59 0 Hypotonia, ataxia, and delayed development syndrome
EBP 99.89 0 MEND syndrome
ECHS1 98.49 0 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
EDC3 99.68 0 Mental retardation, autosomal recessive 50
EEF1A2 88.74 0 Mental retardation, autosomal dominant 38
EFNB1 99.39 0 Craniofrontonasal dysplasia
EFTUD2 99.44 0 Mandibulofacial dysostosis, Guion-Almeida type
EHMT1 95.40 0 Kleefstra syndrome
EIF2AK3 94.12 0 Wolcott-Rallison syndrome
EIF2S3 97.88 0 Mental retardation, X-linked, syndromic, Borck type
ELOVL4 99.45 0 Ichthyosis, spastic quadriplegia, and mental retardation
ELP2 98.99 0 Mental retardation, autosomal recessive 58
EML1 96.28 0 Band heterotopia
EMX2 99.48 0 Schizencephaly
ENTPD1 99.05 0 Spastic paraplegia 64, autosomal recessive
EOGT 99.33 0 Adams-Oliver syndrome 4
EP300 99.56 0 Rubinstein-Taybi syndrome 2
EPB41L1 99.69 0 Mental retardation, autosomal dominant 11
EPG5 99.47 0 Vici syndrome
ERCC2 99.67 0 Cerebrooculofacioskeletal syndrome 2
ERCC3 99.68 0 Xeroderma pigmentosum, group B
ERCC4 99.35 0 Xeroderma pigmentosum, type F/Cockayne syndrome
ERCC5 99.48 0 Xeroderma pigmentosum, group G/Cockayne syndrome
ERCC6 99.07 0 Cerebrooculofacioskeletal syndrome 1
ERCC8 99.27 0 Cockayne syndrome, type A
ERLIN2 99.32 0 Spastic paraplegia 18, autosomal recessive
ESCO2 98.50 0 Roberts syndrome
ETHE1 99.60 0 Ethylmalonic encephalopathy
EXOSC3 99.53 0 Pontocerebellar hypoplasia, type 1B
EZH2 99.41 0 Weaver syndrome
EZR 99.63 0 Riecken et al., Hum Mut 2015 : ID
FARS2 99.56 0 Combined oxidative phosphorylation deficiency 14
FAT4 99.39 0 Van Maldergem syndrome 2
FBXL4 99.46 0 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
FBXO31 93.34 0 Mental retardation, autosomal recessive 45
FGD1 98.23 0 Mental retardation, X-linked syndromic 16
FGFR1 99.69 0 Hypogonadotropic hypogonadism 2 with or without anosmia
FGFR2 99.67 0 Saethre-Chotzen syndrome
FGFR3 95.86 0 Crouzon syndrome with acanthosis nigricans
FH 99.29 0 Fumarase deficiency
FKRP 85.03 0 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
FKTN 99.13 0 Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4
FLNA 99.73 0 Heterotopia, periventricular
FMN2 99.05 0 Mental retardation, autosomal recessive 47
FMR1 94.48 0 Fragile X tremor/ataxia syndrome
FOLR1 99.69 0 Neurodegeneration due to cerebral folate transport deficiency
FOXG1 84.20 0 Rett syndrome, congenital variant
FOXP1 99.55 0 Mental retardation with language impairment and with or without autistic features
FOXP2 99.34 0 Speech-language disorder-1
FOXRED1 99.63 0 Leigh syndrome due to mitochondrial complex I deficiency
FRAS1 99.57 0 Fraser syndrome 1
FREM2 99.23 0 Fraser syndrome 2
FRMPD4 96.56 0 Mental retardation, X-linked 104
FTCD 95.82 0 Glutamate formiminotransferase deficiency
FTL 99.55 0 Neurodegeneration with brain iron accumulation 3
FTO 99.47 0 Growth retardation, developmental delay, facial dysmorphism
FTSJ1 99.69 0 Mental retardation, X-linked 9/44
FUCA1 98.18 0 Fucosidosis
GABRA3 87.08 0 Niturad et al., Brain 2017 : range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus.
GABRB3 94.66 0 Epileptic encephalopathy, early infantile, 43
GABRG2 99.57 0 Epilepsy, generalized, with febrile seizures plus, type 3
GALT 99.68 0 Galactosemia
GAMT 93.42 0 Cerebral creatine deficiency syndrome 2
GAN 98.90 0 Giant axonal neuropathy-1
GATAD2B 99.69 0 Mental retardation, autosomal dominant 18
GATM 94.01 0 Cerebral creatine deficiency syndrome 3
GBE1 98.82 0 Glycogen storage disease IV
GCH1 93.92 0 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
GCSH 86.02 0 Glycine encephalopathy
GDI1 95.21 0 Mental retardation, X-linked 41
GFAP 99.69 0 Alexander disease
GJC2 73.70 0 Leukodystrophy, hypomyelinating, 2
GLB1 99.56 0 GM1-gangliosidosis, type I
GLDC 97.83 0 Glycine encephalopathy
GLI2 98.60 0 Holoprosencephaly 9
GLI3 99.55 0 Greig cephalopolysyndactyly syndrome
GLUL 99.68 0 Glutamine deficiency, congenital
GLYCTK 99.69 0 D-glyceric aciduria
GM2A 99.68 0 GM2-gangliosidosis, AB variant
GMPPA 99.69 0 Alacrima, achalasia, and mental retardation syndrome
GMPPB 99.64 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14
GNAI3 99.08 0 Auriculocondylar syndrome 1
GNAO1 99.66 0 Epileptic encephalopathy, early infantile, 17
GNAS 97.96 0 Pseudohypoparathyroidism Ia
GNPAT 97.06 0 Rhizomelic chondrodysplasia punctata, type 2
GNPTAB 99.49 0 Mucolipidosis II alpha/beta
GNPTG 90.19 0 Mucolipidosis III gamma
GNS 99.55 0 Mucopolysaccharidosis type IIID
GPC3 91.66 0 Simpson-Golabi-Behmel syndrome, type 1
GPHN 99.58 0 Molybdenum cofactor deficiency C
GPSM2 99.10 0 Chudley-McCullough syndrome
GPT2 95.20 0 Mental retardation, autosomal recessive 49
GRIA3 89.99 0 Mental retardation, X-linked 94
GRID2 99.47 0 Spinocerebellar ataxia, autosomal recessive 18
GRIK2 99.13 0 Mental retardation, autosomal recessive, 6
GRIN1 99.54 0 Mental retardation, autosomal dominant 8
GRIN2A 99.68 0 Epilepsy, focal, with speech disorder and with or without mental retardation
GRIN2B 99.66 0 Mental retardation, autosomal dominant 6
GRIP1 99.65 0 Fraser syndrome 3
GRM1 99.46 0 Spinocerebellar ataxia 44
GSS 99.59 0 Glutathione synthetase deficiency
GTF2E2 98.86 0 Trichothiodystrophy 6, nonphotosensitive
GTF2H5 99.64 0 Trichothiodystrophy 3, photosensitive
GTPBP3 97.37 0 Combined oxidative phosphorylation deficiency 23
GUSB 98.73 0 Mucopolysaccharidosis VII
HACE1 96.37 0 Spastic paraplegia and psychomotor retardation with or without seizures
HCFC1 99.76 0 Spastic paraplegia and psychomotor retardation with or without seizures
HCN1 94.14 0 Epileptic encephalopathy, early infantile, 24
HDAC4 99.68 0 Fisch et al., AJMG 2016 : ID
HDAC8 99.17 0 Cornelia de Lange syndrome 5
HECW2 99.50 0 Neurodevelopmental disorder with hypotonia, seizures, and absent language
HEPACAM 91.30 0 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
HERC1 99.49 0 Macrocephaly, dysmorphic facies, and psychomotor retardation
HERC2 99.66 0 Mental retardation, autosomal recessive 38
HESX1 98.36 0 Growth hormone deficiency with pituitary anomalies
HEXA 99.67 0 Tay-Sachs disease
HEXB 97.84 0 Sandhoff disease, infantile, juvenile, and adult forms
HGSNAT 94.00 0 Mucopolysaccharidosis type IIIC (Sanfilippo C)
HIVEP2 99.60 0 Mental retardation, autosomal dominant 43
HLCS 99.60 0 Holocarboxylase synthetase deficiency
HNMT 99.26 0 Mental retardation, autosomal recessive 51
HNRNPH2 99.85 0 Mental retardation, X-linked, syndromic, Bain type
HNRNPK 99.17 0 Au-Kline syndrome
HNRNPU 98.33 0 Epileptic encephalopathy, early infantile, 54
HOXA1 99.65 0 Athabaskan brainstem dysgenesis syndrome
HPRT1 75.78 0 Lesch-Nyhan syndrome
HRAS 99.69 0 Costello syndrome
HSD17B10 99.97 0 HSD10 mitochondrial disease
HSPG2 98.62 0 Dyssegmental dysplasia, Silverman-Handmaker type
HUWE1 97.92 0 Mental retardation, X-linked syndromic, Turner type
HYCC1 98.81 0 Leukodystrophy, hypomyelinating, 5
IARS1 99.32 0 Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
IARS2 99.11 0 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
IDS 97.07 0 Mucopolysaccharidosis II
IDUA 77.72 0 Mucopolysaccharidosis Ih/s
IER3IP1 98.86 0 Microcephaly, epilepsy, and diabetes syndrome
IFIH1 99.07 0 Aicardi-Goutieres syndrome 7
IFT172 99.62 0 Short-rib thoracic dysplasia 10 with or without polydactyly
IFT27 99.69 0 Bardet-Biedl syndrome 19
IFT57 98.66 0 Thevenon et al., Clin Genet 2016 : Oro-facial-digital syndrome
IGF1 99.63 0 Growth retardation with deafness and mental retardation due to IGF1 deficiency
IL1RAPL1 93.86 0 Mental retardation, X-linked 21/34
INPP5E 98.14 0 Joubert syndrome 1
INTU 98.49 0 Bruel et al., JMG 2017 : oro-facial-digital syndrome
IQSEC2 97.05 0 Mental retardation, X-linked 1/78
IRX5 89.09 0 Hamamy syndrome
ITGA7 99.67 0 Muscular dystrophy, congenital, due to ITGA7 deficiency
ITPR1 99.38 0 Spinocerebellar ataxia 29, congenital nonprogressive
JAM3 99.20 0 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
KANSL1 99.63 0 Koolen-De Vries syndrome
KAT6A 99.60 0 Mental retardation, autosomal dominant 32
KAT6B 99.21 0 Genitopatellar syndrome
KCNC1 99.05 0 Epilepsy, progressive myoclonic 7
KCNC3 76.28 0 Spinocerebellar ataxia 13
KCNH1 98.56 0 Temple-Baraitser syndrome
KCNJ10 99.68 0 SESAME syndrome
KCNJ11 99.69 0 Diabetes, permanent neonatal, with or without neurologic features
KCNK9 99.67 0 Birk-Barel mental retardation dysmorphism syndrome
KCNMA1 99.54 0 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
KCNQ2 98.93 0 Epileptic encephalopathy, early infantile, 7
KCNQ5 96.45 0 Mental retardation, autosomal dominant 46
KCNT1 98.70 0 Epileptic encephalopathy, early infantile, 14
KCTD7 95.20 0 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
KDM1A 96.83 0 Cleft palate, psychomotor retardation, and distinctive facial features
KDM5C 99.87 0 Mental retardation, X-linked, syndromic, Claes-Jensen type
KDM6A 94.07 0 Kabuki syndrome 2
KIAA0586 92.34 0 Joubert syndrome 23
KIAA0753 99.23 0 Orofaciodigital syndrome XV
KIF11 98.74 0 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
KIF1A 99.66 0 Mental retardation, autosomal dominant 9
KIF4A 99.41 0 Mental retardation, X-linked 100
KIF5A 99.35 0 Myoclonus, intractable, neonatal
KIF5C 96.19 0 Cortical dysplasia, complex, with other brain malformations 2
KIF7 99.42 0 Joubert syndrome 12
KIFBP 96.44 0 Goldberg-Shprintzen megacolon syndrome
KIRREL3 99.66 0 Mental retardation, autosomal dominant 4
KLC2 99.69 0 Spastic paraplegia, optic atrophy, and neuropathy
KMT2A 97.93 0 Wiedemann-Steiner syndrome
KMT2C 99.31 0 Kleefstra syndrome 2
KMT2D 99.67 0 Kabuki syndrome 1
KMT2E 98.54 0 Dong et al., Cell Rep 2014 : trouble du spectre autistique
KMT5B 99.31 0 Stessman et al., Nat Genet 2017 : autisme et retard développemental
KNL1 92.70 0 Microcephaly 4, primary, autosomal recessive
KPTN 99.37 0 Mental retardation, autosomal recessive 41
KRAS 99.32 0 Noonan syndrome 3
L1CAM 99.66 0 CRASH syndrome
L2HGDH 98.45 0 L-2-hydroxyglutaric aciduria
LAMA1 99.13 0 Poretti-Boltshauser syndrome
LAMA2 99.46 0 Muscular dystrophy, congenital, due to partial LAMA2 deficiency
LAMB1 99.50 0 Lissencephaly 5
LAMC3 97.99 0 Cortical malformations, occipital
LAMP2 93.32 0 Danon disease
LARGE1 99.64 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
LARP7 97.40 0 Alazami syndrome
LAS1L 99.76 0 Wilson-Turner syndrome
LIAS 98.94 0 Hyperglycinemia, lactic acidosis, and seizures
LIG4 99.55 0 LIG4 syndrome
LINS1 98.65 0 Mental retardation, autosomal recessive 27
LIPT1 98.69 0 Lipoyltransferase 1 deficiency
LMBRD1 96.94 0 Methylmalonic aciduria and homocystinuria, cblF type
LMNA 99.49 0 Emery-Dreifuss muscular dystrophy 3, AR
LRP2 99.40 0 Donnai-Barrow syndrome
LZTFL1 98.67 0 Bardet-Biedl syndrome 17
LZTR1 99.56 0 Noonan syndrome 10
MAGEL2 98.06 0 Schaaf-Yang syndrome
MAN1B1 98.88 0 Mental retardation, autosomal recessive 15
MAN2B1 99.40 0 Mannosidosis, alpha-, types I and II
MANBA 99.01 0 Mannosidosis, beta
MAOA 85.51 0 Brunner syndrome
MAP2K1 99.62 0 Cardiofaciocutaneous syndrome 3
MAP2K2 99.01 0 Cardiofaciocutaneous syndrome 4
MASP1 99.59 0 3MC syndrome 1
MAT1A 99.66 0 Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency
MBD5 99.52 0 Mental retardation, autosomal dominant 1
MBOAT7 99.50 0 Mental retardation, autosomal recessive 57
MBTPS2 96.46 0 IFAP syndrome with or without BRESHECK syndrome
MCCC1 99.50 0 3-Methylcrotonyl-CoA carboxylase 1 deficiency
MCOLN1 93.43 0 Mucolipidosis IV
MCPH1 98.40 0 Microcephaly 1, primary, autosomal recessive
MECP2 89.77 0 Rett syndrome
MED12 99.82 0 Opitz-Kaveggia syndrome
MED13L 99.52 0 Mental retardation and distinctive facial features with or without cardiac defects
MED17 98.79 0 Microcephaly, postnatal progressive, with seizures and brain atrophy
MED23 98.87 0 Mental retardation, autosomal recessive 18
MEF2C 99.52 0 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
MEIS2 99.65 0 Cleft palate, cardiac defects, and mental retardation
METTL23 99.62 0 Mental retardation, autosomal recessive 44
MFSD8 99.30 0 Ceroid lipofuscinosis, neuronal, 7
MID1 97.46 0 Opitz GBBB syndrome, type I
MKKS 99.58 0 Bardet-Biedl syndrome 6
MKS1 99.54 0 Bardet-Biedl syndrome 13
MLYCD 87.33 0 Malonyl-CoA decarboxylase deficiency
MMACHC 99.68 0 Methylmalonic aciduria and homocystinuria, cblC type
MOCS1 99.68 0 Molybdenum cofactor deficiency A
MOCS2 99.48 0 Molybdenum cofactor deficiency B
MOGS 92.25 0 Congenital disorder of glycosylation, type IIb
MPDU1 99.69 0 Congenital disorder of glycosylation, type If
MPDZ 99.22 0 Hydrocephalus, nonsyndromic, autosomal recessive 2
MPLKIP 99.63 0 Trichothiodystrophy 4, nonphotosensitive
MTFMT 97.00 0 Combined oxidative phosphorylation deficiency 15
MTHFR 99.58 0 Homocystinuria due to MTHFR deficiency
MTM1 94.11 0 Myotubular myopathy, X-linked
MTOR 99.61 0 Smith-Kingsmore syndrome
MTR 99.55 0 Homocystinuria-megaloblastic anemia, cblG complementation type
MTRR 99.33 0 Homocystinuria-megaloblastic anemia, cbl E type
MVK 99.69 0 Mevalonic aciduria
MYCN 82.91 0 Feingold syndrome 1
MYO5A 97.60 0 Griscelli syndrome, type 1
MYT1L 99.59 0 Mental retardation, autosomal dominant 39
NAA10 87.47 0 Ogden syndrome
NACC1 99.66 0 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
NAGA 99.67 0 Schindler disease, type I
NAGLU 84.28 0 Mucopolysaccharidosis type IIIB (Sanfilippo B)
NALCN 99.38 0 Congenital contractures of the limbs and face, hypotonia, and developmental delay
NARS2 98.96 0 Combined oxidative phosphorylation deficiency 24
NBN 98.67 0 Nijmegen breakage syndrome
NDE1 99.69 0 Lissencephaly 4 (with microcephaly)
NDP 99.56 0 Norrie disease
NDST1 99.67 0 Mental retardation, autosomal recessive 46
NDUFA1 97.69 0 Mitochondrial complex I deficiency
NDUFA11 99.69 0 Mitochondrial complex I deficiency
NDUFA12 99.64 0 Leigh syndrome due to mitochondrial complex 1 deficiency
NDUFA2 99.69 0 Leigh syndrome due to mitochondrial complex I deficiency
NDUFA9 99.27 0 Leigh syndrome due to mitochondrial complex I deficiency
NDUFAF6 89.55 0 Leigh syndrome due to mitochondrial complex I deficiency
NDUFS2 99.25 0 Mitochondrial complex I deficiency
NDUFS3 99.67 0 Leigh syndrome due to mitochondrial complex I deficiency
NDUFS4 99.05 0 Mitochondrial complex I deficiency
NDUFS7 99.38 0 Leigh syndrome
NEDD4L 98.92 0 Periventricular nodular heterotopia 7
NEXMIF 97.66 0 Mental retardation, X-linked 98
NFIA 99.44 0 Brain malformations and urinary tract defects
NFIX 99.64 0 Sotos syndrome 2
NGF 99.66 0 Neuropathy, hereditary sensory and autonomic, type V
NHEJ1 99.67 0 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
NHP2 99.64 0 Dyskeratosis congenita, autosomal recessive 2
NHS 88.25 0 Nance-Horan syndrome
NIN 99.20 0 Seckel syndrome 7
NIPBL 98.53 0 Cornelia de Lange syndrome 1
NKX2-1 92.05 0 Choreoathetosis, hypothyroidism, and neonatal respiratory distress
NONO 98.37 0 Mental retardation, X-linked, syndromic 34
NOTCH1 96.74 0 Adams-Oliver syndrome 5
NPC1 98.34 0 Niemann-Pick disease, type C1
NPC2 99.67 0 Niemann-pick disease, type C2
NPHP1 99.24 0 Joubert syndrome 4
NPHP3 98.15 0 Meckel syndrome 7
NR2F1 86.66 0 Bosch-Boonstra-Schaaf optic atrophy syndrome
NR5A1 99.25 0 Adrenocortical insufficiency
NRAS 99.61 0 Noonan syndrome 6
NRXN1 99.52 0 Pitt-Hopkins-like syndrome 2
NSD1 99.26 0 Sotos syndrome 1
NSDHL 99.39 0 CHILD syndrome
NSUN2 95.86 0 Mental retardation, autosomal recessive 5
OCLN 99.47 0 Pseudo-TORCH syndrome 1
OCRL 92.17 0 Lowe syndrome
OFD1 92.99 0 Orofaciodigital syndrome I
OGT 96.41 0 Mental retardation, X-linked 106
OPHN1 90.64 0 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
ORC1 99.49 0 Meier-Gorlin syndrome 1
ORC4 98.60 0 Meier-Gorlin syndrome 2
ORC6 98.10 0 Meier-Gorlin syndrome 3
OSGEP 99.65 0 Braun et al., Nat Genet 2017 : Galloway-Mowat syndrome
OTC 92.10 0 Ornithine transcarbamylase deficiency
OTUD6B 97.03 0 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
PACS1 97.17 0 Schuurs-Hoeijmakers syndrome
PAFAH1B1 98.98 0 Lissencephaly 1
PAH 99.66 0 Phenylketonuria
PAK3 87.10 0 Mental retardation, X-linked 30/47
PANK2 95.75 0 Neurodegeneration with brain iron accumulation 1
PAX1 82.57 0 Otofaciocervical syndrome 2
PAX3 99.68 0 Craniofacial-deafness-hand syndrome
PAX6 99.51 0 Aniridia
PC 99.69 0 Pyruvate carboxylase deficiency
PCDH19 99.22 0 Epileptic encephalopathy, early infantile, 9
PCGF2 99.69 0 Fitzgerald et al., Nature 2015 : retard mental, retard dévelopemental
PCNT 99.50 0 Microcephalic osteodysplastic primordial dwarfism, type II
PDE4D 97.76 0 Acrodysostosis 2, with or without hormone resistance
PDHA1 97.16 0 Pyruvate dehydrogenase E1-alpha deficiency
PDHB 99.40 0 Pyruvate dehydrogenase E1-beta deficiency
PDHX 98.49 0 Lacticacidemia due to PDX1 deficiency
PDSS1 82.84 0 Coenzyme Q10 deficiency, primary, 2
PDSS2 98.95 0 Coenzyme Q10 deficiency, primary, 3
PEPD 99.61 0 Prolidase deficiency
PEX1 98.83 0 Peroxisome biogenesis disorder 1A (Zellweger)
PEX10 83.86 0 Peroxisome biogenesis disorder 6A (Zellweger)
PEX11B 99.63 0 Peroxisome biogenesis disorder 14B
PEX12 99.40 0 Peroxisome biogenesis disorder 3A (Zellweger)
PEX13 99.25 0 Peroxisome biogenesis disorder 11A (Zellweger)
PEX14 99.66 0 Peroxisome biogenesis disorder 13A (Zellweger)
PEX16 99.69 0 Peroxisome biogenesis disorder 8A (Zellweger)
PEX19 99.60 0 Peroxisome biogenesis disorder 12A (Zellweger)
PEX2 99.69 0 Peroxisome biogenesis disorder 5A (Zellweger)
PEX26 96.96 0 Peroxisome biogenesis disorder 7A (Zellweger)
PEX3 98.89 0 Peroxisome biogenesis disorder 10A (Zellweger)
PEX5 99.15 0 Peroxisome biogenesis disorder 2A (Zellweger)
PEX6 98.57 0 Peroxisome biogenesis disorder 4A (Zellweger)
PEX7 90.36 0 Peroxisome biogenesis disorder 9B
PGAP1 97.25 0 Mental retardation, autosomal recessive 42
PGAP2 99.68 0 Hyperphosphatasia with mental retardation syndrome 3
PGAP3 99.15 0 Hyperphosphatasia with mental retardation syndrome 4
PGK1 99.16 0 Phosphoglycerate kinase 1 deficiency
PHC1 99.66 0 Microcephaly 11, primary, autosomal recessive
PHF6 84.23 0 Borjeson-Forssman-Lehmann syndrome
PHF8 99.04 0 Mental retardation syndrome, X-linked, Siderius type
PHGDH 99.67 0 Phosphoglycerate dehydrogenase deficiency
PHIP 95.93 0 Webster et al., Cold Spring Harb Mol Case Stud. 2016 : DD, ID, obésité et dysmorphies
PIGA 92.30 0 Multiple congenital anomalies-hypotonia-seizures syndrome 2
PIGG 99.54 0 Mental retardation, autosomal recessive 53
PIGL 99.59 0 CHIME syndrome
PIGN 97.78 0 Multiple congenital anomalies-hypotonia-seizures syndrome 1
PIGO 99.67 0 Hyperphosphatasia with mental retardation syndrome 2
PIGT 99.63 0 Multiple congenital anomalies-hypotonia-seizures syndrome 3
PIGV 99.66 0 Hyperphosphatasia with mental retardation syndrome 1
PIGW 99.68 0 Hyperphosphatasia with mental retardation syndrome 5
PIGY 99.66 0 Hyperphosphatasia with mental retardation syndrome 6
PIK3R2 91.70 0 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PLA2G6 99.69 0 Neurodegeneration with brain iron accumulation 2B
PLCB1 99.15 0 Epileptic encephalopathy, early infantile, 12
PLCB4 99.09 0 Auriculocondylar syndrome 2
PLOD1 98.58 0 Ehlers-Danlos syndrome, type VI
PLP1 99.86 0 Pelizaeus-Merzbacher disease
PMM2 98.47 0 Congenital disorder of glycosylation, type Ia
PNKP 99.68 0 Microcephaly, seizures, and developmental delay
PNP 99.66 0 Immunodeficiency due to purine nucleoside phosphorylase deficiency
POC1A 99.26 0 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
POGZ 98.81 0 White-Sutton syndrome
POLG 99.59 0 Mitochondrial DNA depletion syndrome 4B (MNGIE type)
POLH 99.55 0 Xeroderma pigmentosum, variant type
POLR3A 99.40 0 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
POLR3B 99.29 0 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
POMGNT1 99.66 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
POMGNT2 99.69 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8
POMK 99.66 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
POMT1 99.56 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
POMT2 98.42 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
PORCN 99.91 0 Focal dermal hypoplasia
PPM1D 98.20 0 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
PPP1CB 99.40 0 Noonan syndrome-like disorder with loose anagen hair 2
PPP2R1A 99.69 0 Mental retardation, autosomal dominant 36
PPP2R5D 99.64 0 Mental retardation, autosomal dominant 35
PPT1 99.67 0 Ceroid lipofuscinosis, neuronal, 1
PQBP1 99.90 0 Renpenning syndrome
PRICKLE1 99.67 0 Epilepsy, progressive myoclonic 1B
PRMT7 99.21 0 Short stature, brachydactyly, intellectual developmental disability, and seizures
PRPS1 98.61 0 Arts syndrome
PRSS12 98.69 0 Mental retardation, autosomal recessive 1
PSAP 99.68 0 Krabbe disease, atypical
PSMD12 99.44 0 Stankiewicz-Isidor syndrome
PTCH1 97.64 0 Holoprosencephaly 7
PTCHD1 99.37 0 Autism, susceptibility to, X-linked 4
PTDSS1 99.56 0 Lenz-Majewski hyperostotic dwarfism
PTEN 98.68 0 Cowden syndrome 1
PTPN11 97.30 0 LEOPARD syndrome 1
PUF60 99.56 0 Verheij syndrome
PURA 84.89 0 Mental retardation, autosomal dominant 31
PUS1 93.31 0 Myopathy, lactic acidosis, and sideroblastic anemia 1
PYCR1 99.67 0 Cutis laxa, autosomal recessive, type IIB
QDPR 96.67 0 Hyperphenylalaninemia, BH4-deficient, C
RAB18 98.43 0 Warburg micro syndrome 3
RAB27A 95.80 0 Griscelli syndrome, type 2
RAB39B 99.96 0 Mental retardation, X-linked 72
RAB3GAP1 99.24 0 Warburg micro syndrome 1
RAB3GAP2 99.14 0 Martsolf syndrome
RAC1 87.43 0 Mental retardation, autosomal dominant 48
RAD21 99.34 0 Cornelia de Lange syndrome 4
RAF1 99.65 0 Noonan syndrome 5
RAI1 97.85 0 Smith-Magenis syndrome
RARB 99.52 0 Microphthalmia, syndromic 12
RARS2 99.20 0 Pontocerebellar hypoplasia, type 6
RASA2 95.15 0 Aoki et al., JHG 2016 : RASopathie
RAX 78.51 0 Microphthalmia, isolated 3
RBBP8 96.69 0 Seckel syndrome 2
RBM10 99.86 0 TARP syndrome
RBM28 99.55 0 Alopecia, neurologic defects, and endocrinopathy syndrome
RBM8A 99.68 0 Thrombocytopenia-absent radius syndrome
RBPJ 99.36 0 Adams-Oliver syndrome 3
RECQL4 91.13 0 Baller-Gerold syndrome
RELN 99.47 0 Lissencephaly 2 (Norman-Roberts type)
RERE 99.45 0 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
RFT1 97.48 0 Congenital disorder of glycosylation, type In
RIT1 99.66 0 Noonan syndrome 8
RMND1 98.79 0 Combined oxidative phosphorylation deficiency 11
RNASEH2A 99.69 0 Aicardi-Goutieres syndrome 4
RNASEH2B 90.13 0 Aicardi-Goutieres syndrome 2
RNASEH2C 96.74 0 Aicardi-Goutieres syndrome 3
RNASET2 99.45 0 Leukoencephalopathy, cystic, without megalencephaly
RNF113A 99.85 0 Trichothiodystrophy 5, nonphotosensitive
ROGDI 90.00 0 Kohlschutter-Tonz syndrome
RPGRIP1L 95.44 0 Joubert syndrome 7
RPIA 98.01 0 Ribose 5-phosphate isomerase deficiency
RPS6KA3 85.79 0 Coffin-Lowry syndrome
RRAS 94.39 0 Flex et al., HMG 2014 : RASopathie
RTEL1 99.69 0 Dyskeratosis congenita, autosomal recessive 5
RTTN 98.71 0 Microcephaly, short stature, and polymicrogyria with seizures
SALL1 99.68 0 Townes-Brocks branchiootorenal-like syndrome
SAMHD1 99.47 0 Aicardi-Goutieres syndrome 5
SATB2 99.46 0 Glass syndrome
SC5D 99.08 0 Lathosterolosis
SCN1A 98.95 0 Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
SCN2A 98.85 0 Epileptic encephalopathy, early infantile, 11
SCN8A 99.37 0 Epileptic encephalopathy, early infantile, 13
SCO2 99.68 0 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
SDCCAG8 99.19 0 Bardet-Biedl syndrome 16
SDHAF1 66.11 0 Mitochondrial complex II deficiency
SEPSECS 99.07 0 Pontocerebellar hypoplasia type 2D
SERAC1 98.98 0 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
SETBP1 98.39 0 Mental retardation, autosomal dominant 29
SETD2 99.30 0 Luscan-Lumish syndrome
SETD5 99.55 0 Mental retardation, autosomal dominant 23
SGSH 96.47 0 Mucopolysaccharidosis type IIIA (Sanfilippo A)
SHANK2 83.77 0 Autism susceptibility 17
SHANK3 78.63 0 Phelan-McDermid syndrome
SHH 90.25 0 Holoprosencephaly 3
SHOC2 97.89 0 Noonan-like syndrome with loose anagen hair
SHROOM4 99.52 0 Stocco dos Santos X-linked mental retardation syndrome
SIL1 99.65 0 Marinesco-Sjogren syndrome
SIN3A 99.56 0 Witteveen-Kolk syndrome
SIX3 89.54 0 Holoprosencephaly 2
SKI 93.23 0 Shprintzen-Goldberg syndrome
SKIC3 99.17 0 Trichohepatoenteric syndrome 1
SLC12A6 99.13 0 Agenesis of the corpus callosum with peripheral neuropathy
SLC16A2 99.71 0 Allan-Herndon-Dudley syndrome
SLC17A5 98.53 0 Salla disease
SLC19A3 99.50 0 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)
SLC1A4 97.40 0 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
SLC25A1 86.05 0 Combined D-2- and L-2-hydroxyglutaric aciduria
SLC25A12 99.45 0 Epileptic encephalopathy, early infantile, 39
SLC25A15 99.57 0 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SLC25A19 99.66 0 Microcephaly, Amish type
SLC25A22 99.68 0 Epileptic encephalopathy, early infantile, 3
SLC2A1 93.34 0 GLUT1 deficiency syndrome 1, infantile onset, severe
SLC33A1 98.70 0 Congenital cataracts, hearing loss, and neurodegeneration
SLC35A2 99.98 0 Congenital disorder of glycosylation, type IIm
SLC35C1 99.69 0 Congenital disorder of glycosylation, type IIc
SLC45A1 92.61 0 Intellectual developmental disorder with neuropsychiatric features
SLC46A1 97.75 0 Folate malabsorption, hereditary
SLC4A4 99.23 0 Renal tubular acidosis, proximal, with ocular abnormalities
SLC6A1 99.61 0 Myoclonic-atonic epilepsy
SLC6A17 99.68 0 Mental retardation, autosomal recessive 48
SLC6A3 99.68 0 Parkinsonism-dystonia, infantile
SLC6A8 92.97 0 Cerebral creatine deficiency syndrome 1
SLC7A7 99.67 0 Lysinuric protein intolerance
SLC9A6 80.47 0 Mental retardation, X-linked syndromic, Christianson type
SMARCA2 97.63 0 Nicolaides-Baraitser syndrome
SMARCA4 99.68 0 Coffin-Siris syndrome 4
SMARCB1 99.47 0 Coffin-Siris syndrome 3
SMARCE1 98.87 0 Coffin-Siris syndrome 5
SMC1A 97.41 0 Cornelia de Lange syndrome 2
SMC3 98.62 0 Cornelia de Lange syndrome 3
SMOC1 98.99 0 Microphthalmia with limb anomalies
SMPD1 99.68 0 Niemann-Pick disease, type A
SMS 83.70 0 Mental retardation, X-linked, Snyder-Robinson type
SNAP29 98.97 0 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
SNIP1 99.59 0 Psychomotor retardation, epilepsy, and craniofacial dysmorphism
SNX14 97.83 0 Spinocerebellar ataxia, autosomal recessive 20
SOBP 96.13 0 Mental retardation, anterior maxillary protrusion, and strabismus
SON 99.42 0 ZTTK syndrome
SOS1 98.22 0 Noonan syndrome 4
SOS2 98.32 0 Noonan syndrome 9
SOX10 93.26 0 Waardenburg syndrome, type 2E, with or without neurologic involvement
SOX11 84.37 0 Mental retardation, autosomal dominant, 27
SOX2 95.94 0 Optic nerve hypoplasia and abnormalities of the central nervous system
SOX5 99.56 0 Lamb-Shaffer syndrome
SPECC1L 99.49 0 Opitz GBBB syndrome, type II
SPR 77.10 0 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency
SPRED1 99.22 0 Legius syndrome
SPTAN1 99.48 0 Epileptic encephalopathy, early infantile, 5
SRCAP 99.65 0 Floating-Harbor syndrome
SRD5A3 96.86 0 Congenital disorder of glycosylation, type Iq
ST3GAL3 99.66 0 Mental retardation, autosomal recessive 12
ST3GAL5 85.32 0 Salt and pepper developmental regression syndrome
STAG1 98.01 0 Mental retardation, autosomal dominant 47
STAMBP 99.58 0 Microcephaly-capillary malformation syndrome
STIL 99.24 0 Microcephaly 7, primary, autosomal recessive
STRA6 99.67 0 Microphthalmia, syndromic 9
STT3A 99.55 0 Congenital disorder of glycosylation, type Iw
STT3B 95.54 0 Congenital disorder of glycosylation, type Ix
STX1B 99.68 0 Generalized epilepsy with febrile seizures plus, type 9
STXBP1 99.55 0 Epileptic encephalopathy, early infantile, 4
SUCLG1 98.06 0 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
SUOX 99.68 0 Sulfite oxidase deficiency
SURF1 86.96 0 Leigh syndrome, due to COX IV deficiency
SYN1 88.25 0 Epilepsy, X-linked, with variable learning disabilities and behavior disorders
SYNCRIP 99.45 0 Lelieveld et al., Nat Neurosci 2016 : ID
SYNE1 99.44 0 Spinocerebellar ataxia, autosomal recessive 8
SYNGAP1 99.68 0 Mental retardation, autosomal dominant 5
SYP 93.14 0 Mental retardation, X-linked 96
SYT14 88.69 0 Spinocerebellar ataxia, autosomal recessive 11
TAF1 97.05 0 Mental retardation, X-linked, syndromic 33
TAF2 98.57 0 Mental retardation, autosomal recessive 40
TBC1D23 97.70 0 Pontocerebellar hypoplasia, type 11
TBC1D24 99.68 0 Epileptic encephalopathy, early infantile, 16
TBC1D7 98.94 0 Macrocephaly/megalencephaly syndrome, autosomal recessive
TBCE 98.41 0 Hypoparathyroidism-retardation-dysmorphism syndrome
TBCK 98.05 0 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
TBL1XR1 98.00 0 Mental retardation, autosomal dominant 41
TCF20 99.69 0 Schäfgen et al., EJHG 2016 : TSA, DI, croissance excessive et hypotonie
TCF4 99.65 0 Pitt-Hopkins syndrome
TCOF1 99.61 0 Treacher Collins syndrome 1
TCTN1 99.08 0 Joubert syndrome 13
TCTN2 99.05 0 Joubert syndrome 24
TCTN3 99.61 0 Joubert syndrome 18
TECPR2 99.41 0 Spastic paraplegia 49, autosomal recessive
TECR 99.69 0 Mental retardation, autosomal recessive 14
TFAP2A 99.48 0 Branchiooculofacial syndrome
TGIF1 99.69 0 Holoprosencephaly 4
TH 98.57 0 Segawa syndrome, recessive
THOC2 91.08 0 Mental retardation, X-linked 12/35
THOC6 99.66 0 Beaulieu-Boycott-Innes syndrome
THRA 99.60 0 Hypothyroidism, congenital, nongoitrous, 6
TIMM8A 99.66 0 Mohr-Tranebjaerg syndrome
TINF2 99.67 0 Dyskeratosis congenita, autosomal dominant 3
TMCO1 95.48 0 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
TMEM107 99.69 0 Orofaciodigital syndrome XVI
TMEM138 99.68 0 Joubert syndrome 16
TMEM165 87.14 0 Congenital disorder of glycosylation, type IIk
TMEM216 99.69 0 Joubert syndrome 2
TMEM231 99.62 0 Joubert syndrome 20
TMEM237 97.88 0 Joubert syndrome 14
TMEM67 97.57 0 Joubert syndrome 6
TMEM70 97.01 0 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
TNK2 99.30 0 Hitomi et al., Ann Neurol 2013 : severe autosomal recessive infantile-onset epilepsy and ID
TPK1 98.92 0 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
TPP1 99.65 0 Spinocerebellar ataxia, autosomal recessive 7
TRAPPC11 98.70 0 Muscular dystrophy, limb-girdle, type 2S
TRAPPC9 99.57 0 Mental retardation, autosomal recessive 13
TREX1 99.69 0 Aicardi-Goutieres syndrome 1, dominant and recessive
TRIM32 99.68 0 Bardet-Biedl syndrome 11
TRIO 97.17 0 Mental retardation, autosomal dominant 44
TRIP12 99.18 0 Zhang et al., Hum Gen 2017 : intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
TRMT10A 99.08 0 Microcephaly, short stature, and impaired glucose metabolism 1
TRMU 94.99 0 Liver failure, transient infantile
TRPV4 99.64 0 Spondylometaphyseal dysplasia, Kozlowski type
TSEN2 99.60 0 Pontocerebellar hypoplasia type 2B
TSEN54 87.28 0 Pontocerebellar hypoplasia type 2A
TSFM 85.15 0 Combined oxidative phosphorylation deficiency 3
TSPAN7 98.69 0 Mental retardation, X-linked 58
TTC8 98.67 0 Bardet-Biedl syndrome 8
TTI2 99.57 0 Mental retardation, autosomal recessive 39
TUBA1A 99.69 0 Lissencephaly 3
TUBA8 97.24 0 Cortical dysplasia, complex, with other brain malformations 8
TUBB2A 95.11 0 Cortical dysplasia, complex, with other brain malformations 5
TUBB2B 99.68 0 Cortical dysplasia, complex, with other brain malformations 7
TUBB3 94.69 0 Cortical dysplasia, complex, with other brain malformations 1
TUBB4A 98.34 0 Leukodystrophy, hypomyelinating, 6
TUBG1 99.69 0 Cortical dysplasia, complex, with other brain malformations 4
TUBGCP6 99.69 0 Microcephaly and chorioretinopathy, autosomal recessive, 1
TUSC3 99.45 0 Mental retardation, autosomal recessive 7
TWIST1 59.51 0 Saethre-Chotzen syndrome
UBE2A 81.32 0 Mental retardation, X-linked syndromic, Nascimento-type
UBE3A 98.84 0 Angelman syndrome
UBE3B 99.43 0 Kaufman oculocerebrofacial syndrome
UBR1 98.99 0 Johanson-Blizzard syndrome
UNC80 99.46 0 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
UPF3B 90.82 0 Mental retardation, X-linked, syndromic 14
UQCRQ 99.62 0 Mitochondrial complex III deficiency, nuclear type 4
UROC1 99.69 0 Urocanase deficiency
USP18 99.69 0 Pseudo-TORCH syndrome 2
USP9X 93.59 0 Mental retardation, X-linked 99
VLDLR 97.10 0 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
VPS13B 98.95 0 Cohen syndrome
VRK1 99.08 0 Pontocerebellar hypoplasia type 1A
WAC 97.24 0 Desanto-Shinawi syndrome
WDPCP 98.77 0 Bardet-Biedl syndrome 15
WDR26 99.46 0 Skraban-Deardorff syndrome
WDR45 99.94 0 Neurodegeneration with brain iron accumulation 5
WDR45B 98.84 0 Suleiman et al., Clin Genet 2017 : intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia
WDR62 99.58 0 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
WDR73 99.54 0 Galloway-Mowat syndrome
WDR81 99.65 0 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WWOX 99.63 0 Epileptic encephalopathy, early infantile, 28
XPA 95.49 0 Xeroderma pigmentosum, group A
XPC 99.66 0 Xeroderma pigmentosum, group C
XYLT1 91.40 0 Desbuquois dysplasia 2
YAP1 95.59 0 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
YY1 97.61 0 Gabriele-de Vries syndrome
ZBTB16 99.69 0 Skeletal defects, genital hypoplasia, and mental retardation
ZBTB18 99.10 0 Mental retardation, autosomal dominant 22
ZBTB20 99.63 0 Primrose syndrome
ZBTB24 99.63 0 Immunodeficiency-centromeric instability-facial anomalies syndrome-2
ZC4H2 97.81 0 Wieacker-Wolff syndrome
ZDHHC9 98.90 0 Mental retardation, X-linked syndromic, Raymond type
ZEB2 99.54 0 Mowat-Wilson syndrome
ZFYVE26 99.53 0 Spastic paraplegia 15, autosomal recessive
ZIC2 67.20 0 Holoprosencephaly 5
ZMPSTE24 98.68 0 Mandibuloacral dysplasia with type B lipodystrophy
ZMYND11 99.50 0 Mental retardation, autosomal dominant 30
ZNF335 99.63 0 Microcephaly 10, primary, autosomal recessive
ZNF41 99.90 0 Shoichet et al., AJHG 2013 : X-Linked Mental Retardation
ZNF711 89.61 0 Mental retardation, X-linked 97