Common Variable Immunodeficiency
Gene: ADA2EnsemblGeneIds (GRCh38): ENSG00000093072
EnsemblGeneIds (GRCh37): ENSG00000093072
OMIM: 607575, Gene2Phenotype
ADA2 is in 16 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Clinical manifestations of deficiency of ADA2 (DADA2) include hypogammaglobulinemia and recurrent infections. At least 10 unrelated cases reported, of which 6 have a CVID diagnosis.
Sources: LiteratureCreated: 23 Jul 2020, 4:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688; common variable immunodeficiency
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688
- common variable immunodeficiency
- OMIM
- 607575
- Clinvar variants
- Variants in ADA2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Stroke
- Red cell disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Nucleotide metabolism disorders
- Prepair 1000+
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Autoinflammatory Disorders
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Common Variable Immunodeficiency
- Disorders of immune dysregulation
- Autoimmune Lymphoproliferative Syndrome
- Mendeliome
- IBMDx study
- Cerebral vascular malformations
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ada2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ada2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ADA2 was added gene: ADA2 was added to Common Variable Immunodeficiency. Sources: Literature Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA2 were set to 26922074; 29963054; 32659374; 24552284; 28493328; 28493328 Phenotypes for gene: ADA2 were set to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688; common variable immunodeficiency Review for gene: ADA2 was set to GREEN