AutismKB 2.0

Evidence Details for NHS


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Basic Information Top
Gene Symbol:NHS ( DKFZp781F2016,DKFZp781L0254,FLJ22511,SCML1 )
Gene Full Name: Nance-Horan syndrome (congenital cataracts and dental anomalies)
Band: Xp22.2-p22.13
Quick LinksEntrez ID:4810; OMIM: 300457; Uniprot ID:NHS_HUMAN; ENSEMBL ID: ENSG00000188158; HGNC ID: 7820
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NHS|4810|nucleotide
ATGGCTCTGGCCTGCTGCATGCCCAAGAATGCAGCCGTCTCCAACCTGGACATAGAGAGTAAGCTGAGTGTGTACTACCGCGCCCCGTGGCACCAGCAGCGCAAC
ATCTTCCTCCCAGCCACAAGGCCACCCTGCGTGGAGGAGCTGCACCGCCACGCCCGGCAGAGCCTGCAAGCCCTGCGCAGAGAACACCGGAGCCGGAGCGATCGC
CGAGAGCAAAGAGCAGCTGCCCCCCTTTCCATTGCAGCTCCTCCACTGCCAGCCTACCCTCCAGCTCACAGCCAGAGGAGGCGTGAGTTTAAGGACCGTCACTTT
TTAACGTTTAACAGCACCCGTTCGCCCTCCCCCACTGAATGTTGCCACATGACCCCGTGGAGTAGAAAGTCCCATCCCCCAGAGGATGAAGATACAGATGTCATG
TTAGGGCAGAGGCCGAAAAACCCAATACACAATATCCCTTCCACACTGGACAAGCAGACCAACTGGAGCAAAGCACTACCTCTCCCGACGCCAGAGGAGAAGATG
AAACAAGATGCCCAAGTGATTTCTTCTTGCATTATTCCCATCAATGTTACTGGAGTTGGCTTTGACAGAGAGGCTAGTATACGCTGCTCTCTGGTTCATTCACAA
TCGGTACTACAGCGGAGACGAAAATTGAGGAGGAGGAAAACCATCTCGGGTATCCCCAGAAGAGTTCAACAAGAAATAGATTCTGATGAATCACCAGTGGCCAGG
GAAAGGAATGTGATTGTGCACACAAACCCAGACCCCTCCAACACTGTCAATAGGATATCCGGAACCAGGGACTCTGAGTGCCAAACCGAGGATATTCTGATTGCT
GCCCCATCCAGAAGGAGAATCAGAGCTCAAAGGGGTCAAAGCATTGCAGCTTCCCTTTCTCATTCTGCTGGCAACATTTCTGCCCTAGCAGACAAAGGTGACACC
ATGTTTACTCCTGCAGTGAGCAGCCGCACAAGATCTCGGAGCCTTCCCCGGGAAGGTAATAGAGGTGGGGATGCTGAGCCCAAAGTTGGCGCTAAACCCTCAGCA
TATGAAGAGGGAGAGTCTTTTGTGGGTGACCATGAAAGAACCCCTAATGATTTCAGTGAGGCTCCAAGCAGCCCGAGTGCCCAGGACCACCAGCCTACTTTGGGC
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>NHS|4810|protein
MALACCMPKNAAVSNLDIESKLSVYYRAPWHQQRNIFLPATRPPCVEELHRHARQSLQALRREHRSRSDRREQRAAAPLSIAAPPLPAYPPAHSQRRREFKDRHF
LTFNSTRSPSPTECCHMTPWSRKSHPPEDEDTDVMLGQRPKNPIHNIPSTLDKQTNWSKALPLPTPEEKMKQDAQVISSCIIPINVTGVGFDREASIRCSLVHSQ
SVLQRRRKLRRRKTISGIPRRVQQEIDSDESPVARERNVIVHTNPDPSNTVNRISGTRDSECQTEDILIAAPSRRRIRAQRGQSIAASLSHSAGNISALADKGDT
MFTPAVSSRTRSRSLPREGNRGGDAEPKVGAKPSAYEEGESFVGDHERTPNDFSEAPSSPSAQDHQPTLGLACSQHLHSPQHKLSERGRSRLSRMAADSGSCDIS
SNSDTFGSPIHCISTAGVLLSSHMDQKDDHQSSSGNWSGSSSTCPSQTSETIPPAASPPLTGSSHCDSELSLNTAPHANEDASVFVTEQYNDHLDKVRGHRANSF
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) Yes 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2) 0 (0) 18 (4)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceXL
OMIMNance-Horan syndrome (302350)
DescriptionNance-Horan syndrome (congenital cataracts and dental anomalies)
Reference(s)9268101;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Vazna, 2010 Czech aCGHASD - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Linkage Studies Top