GNAS
Homo sapiens
Gene Name: GNAS complex locus
Aliases: NESP55 (OLD symbol), XL, AHO, GSA, GSP, POH, XL2, GPSA, NESP, SCG6, GNAS1, PHP1A , PHP1B, GNASXL, NESP55, C20orf45, MGC33735, XLalphas, dJ309F20.1.1, dJ806M20.3. 3
Chromosome No: 20
Chromosome Band: 20q13.32
Genetic Category: Rare Single Gene variant, Genetic Association-Rare Single Gene variant
Aliases: NESP55 (OLD symbol), XL, AHO, GSA, GSP, POH, XL2, GPSA, NESP, SCG6, GNAS1, PHP1A , PHP1B, GNASXL, NESP55, C20orf45, MGC33735, XLalphas, dJ309F20.1.1, dJ806M20.3. 3
Chromosome No: 20
Chromosome Band: 20q13.32
Genetic Category: Rare Single Gene variant, Genetic Association-Rare Single Gene variant
Summary Statistics:
ASD Reports: 9
Recent Reports: 1
Annotated variants: 14
Associated CNVs: 4
Evidence score: 2
ASD Reports: 9
Recent Reports: 1
Annotated variants: 14
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
SNPs have been identified in the GNAS gene in a screening of autistic, OCD and ADHD patients (Kim et al., 2000). In addition, a rare mutation in the GNAS gene has been identified in an individual with ASD (Sanders et al., 2012).
Molecular Function
The encoded protein has GTPase activity.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Deletion polymorphism in the coding region of the human NESP55 alternative transcript of GNAS1.
ASD
OCD
Support
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Support
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients.
ID
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
ASD
Highly Cited
An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus.
Recent Recommendation
Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN105C001
upstream_gene_variant
A797G
Caucasian, African-American, Hispanic
Discovery
GEN105C002
synonymous_variant
c.1031C>T
p.(=)
Caucasian, African-American, Hispanic
Discovery
GEN105C003
synonymous_variant
c.1142C>T
p.(=)
Caucasian, African-American, Hispanic
Discovery
GEN105C004
synonymous_variant
c.1235C>T
p.(=)
Caucasian, African-American, Hispanic
Discovery
GEN105C005
intron_variant
C1649T
N/A
Caucasian, African-American, Hispanic
Discovery
GEN105C006
intron_variant
A1682G
N/A
Caucasian, African-American, Hispanic
Discovery
