ARHGAP33
Homo sapiens
Gene Name: Rho GTPase activating protein 33
Aliases: NOMA-GAP, SNX26, TCGAP
Chromosome No: 19
Chromosome Band: 19q13.12
Genetic Category: Functional-Rare single gene variant
Aliases: NOMA-GAP, SNX26, TCGAP
Chromosome No: 19
Chromosome Band: 19q13.12
Genetic Category: Functional-Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 1
Evidence score: 2
ASD Reports: 5
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 1
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A mouse model with a loss-of-function mutation in the ARHGAP33 gene exhibited altered social behavior and dendritic spine and synapse development (Schuster et al., 2015).
Molecular Function
This gene encodes a member of the sorting nexin family. Members of this family are involved in intracellular trafficking.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
NOMA-GAP/ARHGAP33 regulates synapse development and autistic-like behavior in the mouse.
Support
Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
DD, epilepsy/seizures
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN713R001a
missense_variant
c.1495G>A
p.Val499Met
Familial
Both parents
Multiplex
GEN713R002
frameshift_variant
c.3166_3167del
p.His1056Ter
Familial
Paternal
Multiplex
Common
No Common Variants Available