AutismKB

Evidence Detail for SHANK3


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Basic Information Top
Gene Symbol:SHANK3 ( DEL22q13.3,KIAA1650,PROSAP2,PSAP2,SPANK-2 )
Gene Full Name: SH3 and multiple ankyrin repeat domains 3
Band: 22q13.3
Quick LinksEntrez ID:85358; OMIM: 606230; Uniprot ID:F2Z3L0_HUMAN; ENSEMBL ID: ENSG00000251322
Sequences Top
>SHANK3|85358|nucleotide
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>SHANK3|85358|protein
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 2 (10) 0 (0) 0 (0) 3 (3) 25 (3)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAD
OMIMChromosome 22q13.3 deletion syndrome (606232)
Description22q13 deletion syndrome (Phelan-McDermid syndrome) is caused by deletions of SHANK3; ASD or autistic features are frequent. SHANK3 mutations have also been reported in individuals with ASD
Reference(s)20186804; 17173049; 18615476; 19736351; 15286229; 17999366; 10735630;
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.
Low Scale Association Studies (by Ethnic Group) Top