VWA7von Willebrand factor A domain containing 7
Autism Reports / Total Reports
3 / 3Rare Variants / Common Variants
9 / 0Aliases
VWA7, C6orf27, G7c, NG37Associated Syndromes
-Chromosome Band
6p21.33Associated Disorders
-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
SFARI Genomic Platforms
Reports related to VWA7 (3 Reports)
# | Type | Title | Author, Year | Autism Report | Associated Disorders |
---|---|---|---|---|---|
1 | Primary | A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia | Luo Y et al. (2020) | Yes | - |
2 | Support | - | Zhou X et al. (2022) | Yes | - |
3 | Support | - | Cirnigliaro M et al. (2023) | Yes | - |
Rare Variants (9)
Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
---|---|---|---|---|---|---|---|---|
c.394C>T | p.Arg132Ter | stop_gained | Familial | - | - | 32778826 | Luo Y et al. (2020) | |
c.1159G>C | p.Gly387Arg | missense_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
c.893_894del | p.Arg298ProfsTer30 | frameshift_variant | Familial | - | - | 32778826 | Luo Y et al. (2020) | |
c.1041_1054dup | p.Val352AlafsTer86 | frameshift_variant | Familial | - | - | 32778826 | Luo Y et al. (2020) | |
c.1044_1057dup | p.His353ProfsTer85 | frameshift_variant | Familial | - | - | 32778826 | Luo Y et al. (2020) | |
c.58C>T | p.Gln20Ter | stop_gained | Familial | Maternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
c.1324delinsGGTGAGTC | p.Phe442GlyfsTer7 | frameshift_variant | De novo | - | Simplex | 35982159 | Zhou X et al. (2022) | |
c.2342_2345del | p.Asn781SerfsTer21 | frameshift_variant | Familial | Paternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) | |
c.2595_2596insCCTTTTCCCCCTTCACATTGGTGACTCAAGGCAGGGCT | p.Gly866ProfsTer8 | frameshift_variant | Familial | Paternal | Multiplex | 37506195 | Cirnigliaro M et al. (2023) |
Common Variants
No common variants reported.
SFARI Gene score
Suggestive Evidence


Score Delta: Score remained at 3
criteria met
See SFARI Gene'scoring criteriaThe literature is replete with relatively small studies of candidate genes, using either common or rare variant approaches, which do not reach the criteria set out for categories 1 and 2. Genes that had two such lines of supporting evidence were placed in category 3, and those with one line of evidence were placed in category 4. Some additional lines of "accessory evidence" (indicated as "acc" in the score cards) could also boost a gene from category 4 to 3.
4/1/2022

Increased from to 3
Krishnan Probability Score
Score 0.4917894135437
Ranking 5078/25841 scored genes
[Show Scoring Methodology]
ExAC Score
Score 4.2888094193917E-7
Ranking 15291/18225 scored genes
[Show Scoring Methodology]
Sanders TADA Score
Score 0.94706504028325
Ranking 17124/18665 scored genes
[Show Scoring Methodology]
Zhang D Score
Score -0.64048225386673
Ranking 20090/20870 scored genes
[Show Scoring Methodology]