VWA7
Homo sapiens
Gene Name: von Willebrand factor A domain containing 7
Aliases: C6orf27, G7c, NG37
Chromosome No: 6
Chromosome Band: 6p21.33
Genetic Category: Rare single gene variant
Aliases: C6orf27, G7c, NG37
Chromosome No: 6
Chromosome Band: 6p21.33
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 2
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 9
Associated CNVs: 2
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Integration of familial whole-exome datasets of 3,531 individuals from 1,704 simplex ASD families and 50 multiplex ASD families and expression data from the BrainSpan Atlas of the Developmental Human Brain in Luo et al., 2020 identified a neurodevelopmentally co-regulated, sex-differentially expressed cluster of exons enriched with ASD-segregating deleterious variants in the VWA7 gene (Bonferroni-corrected cluster P-value of 3.44E-04).
Molecular Function
Found in the major hispocompatibility complex class III region. May be implicated in susceptibility to lung tumors.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN1211R005
frameshift_variant
c.1324delinsGGTGAGTC
p.Phe442GlyfsTer7
De novo
Simplex
GEN1211R007
frameshift_variant
c.2595_2596insCCTTTTCCCCCTTCACATTGGTGACTCAAGGCAGGGCT
p.Gly866ProfsTer8
Familial
Paternal
Multiplex
GEN1211R008
frameshift_variant
c.2342_2345del
p.Asn781SerfsTer21
Familial
Paternal
Multiplex
Common
No Common Variants Available