RAB19
Homo sapiens
Gene Name: RAB19, member RAS oncogene family
Aliases: RAB19B
Chromosome No: 7
Chromosome Band: 7q34
Genetic Category: Rare single gene variant
Aliases: RAB19B
Chromosome No: 7
Chromosome Band: 7q34
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 10
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 10
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A de novo complex chromosomal rearrangement with breakpoints disrupting the intronic sequence of the RAB19, PPFIA1, and SHANK2 genes was identified in a 3.5-year-old male patient with moderate ID, speech delay, autistic behavior, and facial dysmorphism (Schluth-Bolard et al., 2013).
Molecular Function
This gene encodes for a member of the RAS oncogene family.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangemen...
DD, ID
Autistic behavior
Support
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
TS
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD