SGSM3
Homo sapiens
Gene Name: Small G protein signaling modulator 3
Aliases: RP5-1042K10.9, MAP, RABGAP5, RUSC3, RUTBC3, RabGAP-5
Chromosome No: 22
Chromosome Band: 22q13.1
Genetic Category: Rare Single Gene variant-Syndromic
Aliases: RP5-1042K10.9, MAP, RABGAP5, RUSC3, RUTBC3, RabGAP-5
Chromosome No: 22
Chromosome Band: 22q13.1
Genetic Category: Rare Single Gene variant-Syndromic
Summary Statistics:
ASD Reports: 9
Recent Reports: 0
Annotated variants: 18
Associated CNVs: 6
Evidence score: 2
ASD Reports: 9
Recent Reports: 0
Annotated variants: 18
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
De novo variants in this gene were identified in two separate reports using ASD probands from the Simons Simplex Collection (Sanders et al. 2012a, 2012b)
Molecular Function
May play a cooperative role in NF2-mediated growth suppression of cells.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown diagnosis
Support
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia
ASD
Support
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
ASD
Support
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews
DD
ADHD, ID
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN475R005
synonymous_variant
c.1680G>T
p.Val560=
De novo
Unknown
GEN475R007
frameshift_variant
c.792dup
p.Glu265ArgfsTer90
Familial
Maternal
Multiplex
GEN475R010a
frameshift_variant
c.981dup
p.Glu328ArgfsTer90
Familial
Both parents
Multiplex
GEN475R011a
frameshift_variant
c.981dup
p.Glu328ArgfsTer90
Familial
Both parents
Multiplex
GEN475R012a
frameshift_variant
c.981dup
p.Glu328ArgfsTer90
Familial
Both parents
Simplex
GEN475R013a
frameshift_variant
c.981dup
p.Glu328ArgfsTer90
Familial
Both parents
Simplex
GEN475R014a
frameshift_variant
c.981dup
p.Glu328ArgfsTer90
Familial
Both parents
Simplex
GEN475R015a
frameshift_variant
c.981dup
p.Glu328ArgfsTer90
Familial
Both parents
Multiplex
GEN475R016a
frameshift_variant
c.981dup
p.Glu328ArgfsTer90
Familial
Both parents
Simplex
GEN475R017a
frameshift_variant
c.981dup
p.Glu328ArgfsTer90
Familial
Both parents
Simplex
Common
No Common Variants Available
