ADA
Homo sapiens
Gene Name: adenosine deaminase
Aliases:
Chromosome No: 20
Chromosome Band: 20q13.12
Genetic Category: Genetic Association--Rare single gene variant
Aliases:
Chromosome No: 20
Chromosome Band: 20q13.12
Genetic Category: Genetic Association--Rare single gene variant
Summary Statistics:
ASD Reports: 8
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 0
Evidence score: 2
ASD Reports: 8
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 0
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Several studies have found a genetic association between the ADA gene and autism. Positive associations have been found in Italian and North American population samples.
Molecular Function
The encoded protein catalyzes the hydrolysis of adenosine to inosine.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Autism: evidence of association with adenosine deaminase genetic polymorphism.
ASD
Positive Association
The G22A polymorphism of the ADA gene and susceptibility to autism spectrum disorders.
ASD
Positive Association
Adenosine deaminase alleles and autistic disorder: case-control and family-based association studies.
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
Highly Cited
Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity.
Recent Recommendation
Partially adenosine deaminase-deficient mice develop pulmonary fibrosis in association with adenosine elevations.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN002R002
frameshift_variant
c.370_372del
p.Leu124del
Familial
Maternal
Multiplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN002C001
missense_variant
rs73598374
c.22G>A
p.Asp8Asn
Italian
Replication
GEN002C002
missense_variant
rs73598374
c.22G>A
p.Asp8Asn
North American
Replication
