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Centre de Génétique Humaine - CHU Sart-Tilman

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Name of the laboratory:
Centre de Génétique Humaine - CHU Sart-Tilman
Abbreviation:
CHULg
RIZIV number:
86299019-996
Address:

Domaine Universitaire du Sart Tilman, Bâtiment B 35
4000 Liège
Liège
Belgium
Telephone:
0032 4 242 5252
Fax:
0032 4 366 8146
E-mail:
genetique.humaine@chuliege.be
URL:
https://www.chuliege.be/jcms/c2_17345742/fr/genetique/biologie-moleculaire-cons…
https://www.chuliege.be/jcms/c2_17345743/fr/genetique/biologie-moleculaire-hema…
https://ng3.economie.fgov.be/NI/belac/medilabs/scope_pdf/128-MED.pdf
https://www.chu.ulg.ac.be/jcms/c_353640/fr/analyses-liste-filtree-des-analyses?…
EQA:
2016 DNA Sequencing – NGS (vGermline) EMQN
2019 DNA Sequencing – NGS (vGermline) EMQN
2020 DNA Sequencing – NGS (vGermline) EMQN
2021 DNA Sequencing – NGS (vGermline) EMQN
2015 Somatic NGS mutation testing EMQN
2016 Somatic NGS mutation testing EMQN
2017 Somatic NGS mutation testing EMQN
2015 DNA Sequencing - Sanger EMQN
2016 DNA Sequencing - Sanger EMQN
2017 DNA Sequencing - Sanger EMQN
2019 DNA Sequencing - Sanger EMQN
2020 DNA Sequencing - Sanger EMQN
2021 DNA Sequencing - Sanger EMQN
2015 Blood -postnatal GenQA (Genomics Quality Assessment)
2016 Blood -postnatal GenQA (Genomics Quality Assessment)
2017 Blood -postnatal GenQA (Genomics Quality Assessment)
2018 Blood -postnatal GenQA (Genomics Quality Assessment)
2020 Blood postnatal GenQA (Genomics Quality Assessment)
2021 Recurrent miscarriage karyotyping GenQA (Genomics Quality Assessment)
2021 Sex chromosome disorders karyotyping GenQA (Genomics Quality Assessment)
2021 Maternal cell contamination and fetal sexing GenQA (Genomics Quality Assessment)
2022 Chromosome breakage syndrome GenQA (Genomics Quality Assessment)
2016 Postnatal constitutional CNV detection (array) GenQA (Genomics Quality Assessment)
2018 Postnatal constitutional CNV detection (array) GenQA (Genomics Quality Assessment)
2019 Postnatal constitutional CNV detection (array) GenQA (Genomics Quality Assessment)
2021 Postnatal constitutional CNV detection GenQA (Genomics Quality Assessment)
2015 Prenatal constitutional CNV detection GenQA (Genomics Quality Assessment)
2016 Prenatal constitutional CNV detection GenQA (Genomics Quality Assessment)
2017 Prenatal constitutional CNV detection GenQA (Genomics Quality Assessment)
2018 Prenatal constitutional CNV detection GenQA (Genomics Quality Assessment)
2019 Prenatal constitutional CNV detection GenQA (Genomics Quality Assessment)
2021 Prenatal constitutional CNV detection GenQA (Genomics Quality Assessment)
Created:
15 May 2018 - 11:40
Changed:
05 Jan 2022 - 14:13
  • Breast cancer, hereditary (13 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BRCA1 100.00 1 CNV assessed by MLPA
    BRCA2 100.00 1 CNV assessed by MLPA
    TP53 100.00 1 CNV assessed by MLPA (on demand)
    PALB2 100.00 0
    CHEK2 100.00 0
    BARD1 100.00 0
    ATM 100.00 0
    MLH1 100.00 1 CNV assessed by MLPA (on demand)
    MSH2 100.00 1 CNV assessed by MLPA (on demand)
    MSH6 100.00 1 CNV assessed by MLPA (on demand)
    BRIP1 100.00 0
    RAD51C 100.00 0
    RAD51D 100.00 0
  • Cancer (Breast, ovary, colon,…) (26 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABRAXAS1
    ATM
    BARD1
    BRCA1
    BRCA2
    BLM
    BRIP1
    CDH1
    CHEK2
    EPCAM
    MEN1
    MLH1
    MRE11
    MSH2
    MSH6
    MUTYH
    NBN
    PALB2
    PMS2
    PTEN
    RAD50
    RAD51C
    RAD51D
    STK11
    TP53
    XRCC2
  • Central Precocious Puberty (5 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    MKRN3 100.00 0
    KISS1 100.00 0
    KISS1R 100.00 0
    PROKR2 100.00 0
    DLK1 100.00 0
  • Cerebral folate transport deficiency (2 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    FOLR1
    FOLR2
  • Congenital or familial erythrocytosis (5 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    JAK2 0.00 0
    EPO 0.00 0
    EPOR 0.00 0
    VHL 0.00 0
    EPAS1 0.00 0
    EGLN1 0.00 0
  • Early-onset severe obesity (44 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADCY3 100.00 0 only for coding exons and intronic borders +/-14pb
    ALMS1 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS1 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS2 100.00 0 only for coding exons and intronic borders +/-14pb
    ARL6 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS4 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS5 100.00 0 only for coding exons and intronic borders +/-14pb
    MKKS 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS7 100.00 0 only for coding exons and intronic borders +/-14pb
    TTC8 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS9 99.99 0 only for coding exons and intronic borders +/-14pb
    BBS10 100.00 0 only for coding exons and intronic borders +/-14pb
    TRIM32 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS12 100.00 0 only for coding exons and intronic borders +/-14pb
    MKS1 100.00 0 only for coding exons and intronic borders +/-14pb
    CEP290 99.99 0 only for coding exons and intronic borders +/-14pb
    WDPCP 100.00 0 only for coding exons and intronic borders +/-14pb
    SDCCAG8 100.00 0 only for coding exons and intronic borders +/-14pb
    LZTFL1 100.00 0 only for coding exons and intronic borders +/-14pb
    BBIP1 100.00 0 only for coding exons and intronic borders +/-14pb
    IFT27 100.00 0 only for coding exons and intronic borders +/-14pb
    BDNF 100.00 0 only for coding exons and intronic borders +/-14pb
    CREBBP 99.99 0 only for coding exons and intronic borders +/-14pb
    EP300 99.99 0 only for coding exons and intronic borders +/-14pb
    GNAS 99.34 0 only for coding exons and intronic borders +/-14pb
    INPP5E 97.02 0 only for coding exons and intronic borders +/-14pb
    LEP 100.00 1 only for coding exons and intronic borders +/-14pb
    LEPR 99.99 1 only for coding exons and intronic borders +/-14pb
    MAGEL2 99.54 0 only for coding exons and intronic borders +/-14pb
    MC3R 100.00 1 only for coding exons and intronic borders +/-14pb
    MC4R 100.00 1 only for coding exons and intronic borders +/-14pb
    MYT1L 100.00 0 only for coding exons and intronic borders +/-14pb
    NTRK2 100.00 0 only for coding exons and intronic borders +/-14pb
    PCSK1 99.99 0 only for coding exons and intronic borders +/-14pb
    PHF6 99.98 0 only for coding exons and intronic borders +/-14pb
    POMC 99.97 1 only for coding exons and intronic borders +/-14pb
    RAB23 100.00 0 only for coding exons and intronic borders +/-14pb
    SETD2 100.00 0 only for coding exons and intronic borders +/-14pb
    SH2B1 100.00 1 only for coding exons and intronic borders +/-14pb
    SIM1 100.00 1 only for coding exons and intronic borders +/-14pb
    TBX3 98.58 0 only for coding exons and intronic borders +/-14pb
    TUB 100.00 0 only for coding exons and intronic borders +/-14pb
    DYRK1B 99.94 0 only for coding exons and intronic borders +/-14pb
    MRAP2 100.00 0 only for coding exons and intronic borders +/-14pb
  • Erythocyoses, polycythémies, thrombocytoses congénitales (gene panel) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ANKRD26 0.00 0
    BPGM 0.00 0
    CSF1R 0.00 0
    CSF3R 0.00 0
    DDX41 0.00 0
    EGLN1 0.00 0
    ELANE 0.00 0
    EPAS1 0.00 0
    EPO 0.00 0
    EPOR 0.00 0
    GATA2 0.00 0
    JAK1 0.00 0
    JAK2 0.00 0
    JAK3 0.00 0
    MPL 0.00 0
    PIEZO1 0.00 0
    SLC30A10 0.00 0
    STAT3 0.00 0
    STAT5B 0.00 0
    THPO 0.00 0
    VHL 0.00 0
    SH2B3 0.00 0
  • Familial Hypercholesterolemia panel (9 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    LDLR 100.00 1 only for 5'UTR + coding exons + intronic borders +/-14pb
    APOB 99.79 0 only for coding exons and intronic borders +/-14pb Exons 26 and 29 are entirely covered at 30x Exon 1 is not covered
    APOE 100.00 0 only for coding exons and intronic borders +/-14pb
    PCSK9 100.00 0 only for coding exons and intronic borders +/-14pb
    LDLRAP1 98.69 0 only for coding exons and intronic borders +/-14pb exon 1 is not covered
    LIPA 100.00 0 only for coding exons and intronic borders +/-14pb
    ABCG5 100.00 0 only for coding exons and intronic borders +/-14pb
    ABCG8 100.00 0 only for coding exons and intronic borders +/-14pb
    STAP1 100.00 0 only for coding exons and intronic borders +/-14pb
  • Germline analysis of BRCA1/2 for iPARP treatment
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BRCA1 100.00 1
    BRCA2 100.00 1
  • Hematologic Familiar Forms - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    RPS7 88.11 0 No
    CHEK2 80.48 0 No
    PTPN11 95.76 0 No
    KRAS 96.88 0 No
    RPS10 98.48 0 No
    FANCM 97.86 0 No
    RPL35A 98.16 0 No
    RPS24 98.39 0 No
    ANKRD26 100.00 0 Genomic start 27389256 to genomic end 27389427 UTR position
    RPL5 96.83 0 No
    SHQ1 97.53 0 No
    RPS26 98.64 0 No
    SRP72 97.98 0 No
    FANCL 98.99 0 No
    EGLN1 98.71 0 No
    JAK2 97.81 0 No
    DNAJC21 98.55 0 No
    NF1 96.15 0 No
    BLM 98.77 0 No
    SBF2 99.19 0 No
    MSH2 98.36 0 No
    ATM 98.90 0 No
    ERCC4 98.33 0 No
    RPL11 99.02 0 No
    NBN 99.57 0 No
    PMS2 98.87 0 No
    ATG2B 99.33 0 No
    BRCA2 99.11 0 No
    ERCC6L2 99.48 0 No
    ATR 99.19 0 No
    VPS45 99.60 0 No
    SRP54 99.44 0 No
    SBDS 96.51 0 No
    UBE2T 98.01 0 No
    RBM8A 99.34 0 No
    RAD51C 99.83 0 No
    FANCC 99.72 0 No
    FANCD2 99.00 0 No
    BRIP1 99.61 0 No
    BRCA1 99.80 0 No
    CEBPA 99.48 0 No
    PARN 99.84 0 No
    MSH6 99.84 0 No
    MECOM 99.83 0 No
    PALB2 99.80 0 No
    FANCE 97.83 0 No
    PAX5 99.72 0 No
    RAD51 99.94 0 No
    ATRX 99.85 0 No
    FANCB 99.61 0 No
    FANCI 99.66 0 No
    STN1 99.75 0 No
    NHP2 99.79 0 No
    MLH1 99.86 0 No
    TERT 100.00 0 Genomic start 1295105 to genomic end 1295162 UTR position
    XRCC2 99.97 0 No
    FANCA 99.93 0 No
    EPAS1 99.62 0 No
    TET2 99.97 0 No
    HAX1 99.98 0 No
    SLX4 99.98 0 No
    CBL 99.87 0 No
    WAS 99.90 0 No
    USB1 100.00 0 No
    EPO 99.99 0 No
    VHL 99.98 0 No
    MAD2L2 100.00 0 No
    RUNX1 99.94 0 No
    CTC1 99.99 0 No
    GSKIP 99.99 0 No
    DKC1 100.00 0 Genomic start 153991031 to genomic end 153991240 UTR position
    SAMD9L 99.96 0 No
    MPL 99.99 0 No
    ETV6 100.00 0 No
    LIG4 99.98 0 No
    NOP10 99.99 0 No
    G6PC3 100.00 0 No
    CSF3R 100.00 0 No
    SAMD9 100.00 0 No
    ELANE 100.00 0 No
    GATA2 100.00 0 No
    RPS19 100.00 0 No
    GFI1 100.00 0 No
    FANCF 100.00 0 No
    TPP1 99.99 0 No
    FANCG 100.00 0 No
    WRAP53 100.00 0 No
    TP53 100.00 0 No
    TINF2 100.00 0 No
    EPOR 100.00 0 No
    DDX41 100.00 0 No
    THPO 100.00 0 No
    TERC 100.00 0 Genomic start 169482849 to genomic end 169483098 UTR position
    RTEL1 100.00 0 Genomic start 62326911 to genomic end 62326911 and genomic start 62326900 to genomic end 62326928 and genomic start 62326958 to genomic end 62326986 intronic positions and 99.98 for CDS
  • Hereditary Melanoma Panel (7 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    CDKN2A 100.00 0
    CDK4 100.00 0
    POT1 100.00 0
    TERT 100.00 0
    TERF2IP 100.00 0
    BAP1 100.00 0
    MITF 100.00 0
  • Hereditary Myelodysplastic /Acute Leukemia Predisposition Syndromes (gene panel)
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    CEBPA 100.00 0 Exon 1
    ETV6 100.00 0 Exons 1-6
    GATA1 100.00 0 Exons 2-6
    GATA2 100.00 0 Exons 2-6
    JAK2 100.00 0 Exons 12 and 14
    MPL 100.00 0 Exon 10
    RUNX1 100.00 0 Exons 1-6
    ANKRD26 100.00 0 5’UTR
    CSF3R 100.00 0 exons 14 and17
    DDX41 100.00 0 exons 3 ;5 ;6 ;8 ;10 ;11 ;15
    SRP72 100.00 0 exons 4 and10
    STAT3 100.00 0 exons 19-24
    TERT 100.00 0 exons 2-9
    TERC 100.00 0 exon 1
    TP53 100.00 0 exons 2-11
  • Hereditary Polyposis Panel (11 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    APC 100.00 1 CNV assessed by MLPA
    MUTYH 100.00 1 CNV assessed by MLPA (Probes for Exons 1, 2, 11, 16 in the SALSA MLPA P043 APC kit)
    BMPR1A 100.00 0
    NTHL1 100.00 0
    SMAD4 100.00 0
    MSH3 100.00 0
    POLE 100.00 0
    POLD1 100.00 0
    PTEN 100.00 1 CNV assessed by MLPA (on demand)
    STK11 100.00 0
    GREM1 100.00 1 CNV assessed by MLPA (Probes for the upstream region in the SALSA MLPA P043 APC kit)
  • Hereditay Non Polyposis Colorectal Cancer (8 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    MLH1 100.00 1 CNV assessed by MLPA
    MSH2 100.00 1 CNV assessed by MLPA
    MSH6 100.00 1 CNV assessed by MLPA
    EPCAM 100.00 0
    TP53 100.00 1 CNV assessed by MLPA
    MUTYH 100.00 1 CNV assessed by MLPA (on demand)
    POLE 100.00 0
    POLD1 100.00 0
  • Hyperekplexia (3 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    SLC6A5
    GLRB
    GLRA1
  • Intellectual disability/Epilepsy (1091 genes) - ULG
    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
    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
    CPLANE1 98.89 0 Joubert syndrome 17
    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
    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
    CERT1 99.15 0 Mental retardation, autosomal dominant 34
    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
    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
    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
    FAM126A 98.81 0 Leukodystrophy, hypomyelinating, 5
    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
    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
    CRPPA 92.51 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
    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
    NEXMIF 97.66 0 Mental retardation, X-linked 98
    KIF11 98.74 0 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
    KIF1A 99.66 0 Mental retardation, autosomal dominant 9
    KIFBP 96.44 0 Goldberg-Shprintzen megacolon syndrome
    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
    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
    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
    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
    SPATA5 98.88 0 Epilepsy, hearing loss, and mental retardation 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
    TTC37 99.17 0 Trichohepatoenteric syndrome 1
    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
  • Non syndromic hearing loss and deafness (2 genes) - IPG - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    GJB2
    GJB6
  • Ovarian cancer / BRCA1/2 somatic
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    BRCA1 100.00 0
    BRCA2 100.00 0
  • Pancreatitis (7 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    CFTR 100.00 1 Duplications/deletions by MLPA
    SPINK1 100.00 0
    PRSS1 100.00 0 Only exons 2, 3, 4, 5 are amplified and analyzed by sequencing.
    CTRC 100.00 0
    CASR 100.00 0
    CLDN2 100.00 0
    CPA1 100.00 0
  • Panel Nephro - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACE 97.24 0
    ACTG2 100.00 0
    ACTN4 100.00 0
    ADAMTS13 96.63 0
    ADAMTS9 100.00 0
    AGXT 100.00 0
    AGTR1 100.00 0
    ALDOB 100.00 0
    ALG5 100.00 0
    ALG8 100.00 0
    ALG9 99.28 0
    ALMS1 100.00 0
    ALPL 100.00 0
    ABCD1 86.23 0
    ANKS6 91.46 0
    ANLN 100.00 0
    ANOS1 94.70 0
    AP2S1 100.00 0
    APOA1 100.00 0
    APOL1 100.00 0
    APRT 100.00 0
    AQP2 100.00 0
    ARHGDIA 100.00 0
    ARL6 100.00 0
    ATP6V0A4 100.00 0
    ATP6V1B1 100.00 0
    ATP7B 100.00 0
    ATXN10 99.92 0
    AVIL 100.00 0
    AVPR2 100.00 0
    B2M 100.00 0
    B9D1 100.00 0
    B9D2 100.00 0
    BBIP1 100.00 0
    BBS1 100.00 0
    BBS10 100.00 0
    BBS12 100.00 0
    BBS2 100.00 0
    BBS4 100.00 0
    BBS5 100.00 0
    BBS7 100.00 0
    BBS9 100.00 0
    BMP4 100.00 0
    BMP7 100.00 0
    BNC2 100.00 0
    BSND 100.00 0
    C3 100.00 0
    CA2 100.00 0
    CASR 100.00 0
    CC2D2A 100.00 0
    CD151 100.00 0
    CD2AP 100.00 0
    CD46 100.00 0
    CDC73 100.00 0
    CENPF 100.00 0
    CEP164 100.00 0
    CEP290 99.95 0
    CEP41 100.00 0
    CEP55 100.00 0
    CEP83 100.00 0
    CFB 100.00 0
    CFH 100.00 0
    CFHR1 95.06 0
    CFHR3 99.44 0
    CFHR5 100.00 0
    CFI 100.00 0
    CHD7 100.00 0
    CHRM3 100.00 0
    CHRNA3 99.35 0
    CLCN5 100.00 0
    CLCNKA 100.00 0
    CLCNKB 100.00 0
    CLDN10 100.00 0
    CLDN16 100.00 0
    CLDN19 100.00 0
    CNNM2 99.42 0
    COL4A1 99.52 0
    COL4A3 99.47 0
    COL4A4 100.00 0
    COL4A5 99.90 0
    COQ2 95.50 0
    COQ6 100.00 0
    COQ8B 100.00 0
    CRB2 94.60 0
    CSPP1 100.00 0
    CTNS 100.00 0
    CTU2 98.44 0
    CUBN 100.00 0
    CYP24A1 100.00 0
    DAAM2 100.00 0
    DCDC2 100.00 0
    DGKE 100.00 0
    DHCR7 99.99 0
    DIS3L2 100.00 0
    DNAJB11 100.00 0
    DSTYK 100.00 0
    DZIP1L 100.00 0
    EGFR 99.63 0
    EHHADH 100.00 0
    EMP2 100.00 0
    EYA1 100.00 0
    FANCA 100.00 0
    FAM20A 99.78 0
    CCNQ 82.12 0
    FAN1 100.00 0
    FGA 100.00 0
    FGF20 99.13 0
    FGF23 100.00 0
    FH 100.00 0
    FLCN 100.00 0
    FN1 99.98 0
    FRAS1 100.00 0
    FREM1 100.00 0
    FREM2 100.00 0
    FXYD2 100.00 0
    G6PC1 100.00 0
    GALT 100.00 0
    GANAB 100.00 0
    GATA3 100.00 0
    GATM 100.00 0
    GLA 100.00 0
    GLI3 100.00 0
    GLIS2 100.00 0
    GNA11 99.87 0
    GPC3 99.84 0
    GREB1L 100.00 0
    GRHPR 100.00 0
    GRIP1 100.00 0
    GSN 100.00 0
    HAAO 100.00 0
    HNF1B 100.00 0
    HNF4A 100.00 0
    HOGA1 100.00 0
    HOXA13 71.26 0
    HPRT1 97.10 0
    HPSE2 100.00 0
    HSD11B2 78.42 0
    IFT122 100.00 0
    IFT140 99.96 0
    IFT172 100.00 0
    IFT27 100.00 0
    IFT80 100.00 0
    INF2 99.98 0
    INVS 100.00 0
    IQCB1 100.00 0
    JAG1 99.83 0
    KANK2 100.00 0
    KCNJ1 100.00 0
    KCNJ10 100.00 0
    KCNJ16 100.00 0
    KDM6A 99.91 0
    KLHL3 100.00 0
    KMT2D 100.00 0
    KYNU 99.98 0
    LAMB2 100.00 0
    LIFR 100.00 0
    LMX1B 100.00 0
    LRIG2 99.95 0
    LRP2 100.00 0
    CORIN 99.14 0
    LRP5 97.83 0
    LRP6 100.00 0
    LYZ 100.00 0
    LZTFL1 100.00 0
    MAGED2 99.94 0
    MAGI2 93.63 0
    MAPKBP1 100.00 0
    MET 100.00 0
    MKKS 100.00 0
    MKS1 100.00 0
    MUC1 100.00 0
    MYO1E 100.00 0
    MYOCD 100.00 0
    NADSYN1 100.00 0
    NEK9 100.00 0
    NIPBL 100.00 0
    NOTCH2 100.00 0
    NPHP1 100.00 0
    NPHP3 99.73 0
    NPHP4 100.00 0
    NPHS1 100.00 0
    NPHS2 100.00 0
    NR3C2 100.00 0
    NRIP1 100.00 0
    NUP107 100.00 0
    NUP133 100.00 0
    NUP160 100.00 0
    NUP205 100.00 0
    NUP85 100.00 0
    NUP93 100.00 0
    OCRL 99.96 0
    OFD1 100.00 0
    PAX2 100.00 0
    PBX1 100.00 0
    PCBD1 92.74 0
    PDE6D 100.00 0
    PDSS2 100.00 0
    PHEX 98.98 0
    PKD1 96.86 0
    PKD2 92.32 0
    PKHD1 100.00 0
    PLCE1 100.00 0
    PLG 100.00 0
    PLVAP 100.00 0
    PRKCSH 100.00 0
    PTPRO 100.00 0
    REN 100.00 0
    RET 99.35 0
    ROBO2 100.00 0
    ROR2 98.01 0
    RPGRIP1L 99.18 0
    RRAGD 99.90 0
    RRM2B 100.00 0
    SALL1 100.00 0
    SARS2 100.00 0
    SCARB2 100.00 0
    SCNN1A 100.00 0
    SCNN1B 100.00 0
    SCNN1G 100.00 0
    SDCCAG8 100.00 0
    SDHB 100.00 0
    SDHD 100.00 0
    SEC61A1 100.00 0
    SEC63 99.95 0
    SGPL1 99.92 0
    SIX1 100.00 0
    SIX5 93.51 0
    SLC12A1 100.00 0
    SLC12A3 100.00 0
    SLC1A1 100.00 0
    SLC22A12 100.00 0
    SLC2A2 100.00 0
    SLC2A9 100.00 0
    SLC34A1 100.00 0
    SLC3A1 100.00 0
    SLC4A1 100.00 0
    SLC4A4 100.00 0
    SLC5A2 100.00 0
    SLC6A19 100.00 0
    SLC7A7 100.00 0
    SLC7A9 100.00 0
    SLC9A3R1 100.00 0
    SLIT2 99.95 0
    SMARCAL1 100.00 0
    SOX17 99.26 0
    STRA6 100.00 0
    TBC1D1 100.00 0
    TBC1D8B 100.00 0 ,
    TBX18 99.84 0
    TCTN2 100.00 0
    TCTN3 100.00 0
    TFAP2A 100.00 0
    THBD 100.00 0
    TMEM138 100.00 0
    TMEM216 100.00 0
    TMEM231 100.00 0
    TMEM237 100.00 0
    TMEM260 97.92 0
    TMEM67 100.00 0
    TRAP1 95.57 0
    TRIM32 100.00 0
    TRIM8 100.00 0
    TRPC6 100.00 0
    TRPM6 100.00 0
    TSC1 100.00 0
    TSC2 100.00 0
    TTC21B 50.00 0
    TTC8 100.00 0
    TTR 100.00 0
    TULP3 100.00 0
    UMOD 100.00 0
    UPK3A 100.00 0
    VDR 100.00 0
    VHL 100.00 0
    WBP11 100.00 0
    WDR19 100.00 0
    WDR35 100.00 0
    WDR73 100.00 0
    WNK1 100.00 0
    WNK4 100.00 0
    WNT5A 88.79 0
    WT1 95.16 0
    XDH 100.00 0
    XPO5 99.80 0
    ZIC3 100.00 0
    ZMYM2 99.97 0
    ZNF423 100.00 0
  • Paraganglioma-pheochromocytoma (6 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    SDHA 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing)
    SDHB 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing)
    SDHC 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing)
    SDHD 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing)
    RET 30.28 0 Coding exons and intronic borders +-14bp (Sanger sequencing)
    VHL 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing)
  • Pituitary adenoma (4 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    MEN1 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing)
    AIP 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing)
    CDKN1B 100.00 1 Coding exons and intronic borders +-14bp (Sanger sequencing)
    PRKAR1A 100.00 0 Coding exons and intronic borders +-14bp (Sanger sequencing)