Hereditary neuropathy or pain disorder
Gene: ADA2EnsemblGeneIds (GRCh38): ENSG00000093072
EnsemblGeneIds (GRCh37): ENSG00000093072
OMIM: 607575, Gene2Phenotype
ADA2 is in 9 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
ADA2 variants have been associated with Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (OMIM:615688). At least nine variants have been reported in at least seven unrelated cases (PMID:34210540:37584090).Created: 22 Oct 2024, 9:17 a.m. | Last Modified: 22 Oct 2024, 9:17 a.m.
Panel Version: 5.40
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688
- vasculitis due to ADA2 deficiency, MONDO:0014306
- OMIM
- 607575
- Clinvar variants
- Variants in ADA2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Cytopenia - NOT Fanconi anaemia
- Autoinflammatory disorders
- Hereditary neuropathy or pain disorder
- Rare anaemia
- Cytopenias and congenital anaemias
- COVID-19 research
- Cerebral vascular malformations
History Filter Activity
Removed Tag, Removed Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: ADA2. Tag Q3_24_NHS_review was removed from gene: ADA2.
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to ADA2. Source Expert Review Green was added to ADA2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: ADA2. Tag Q3_24_NHS_review tag was added to gene: ADA2.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ADA2 were changed from VASCULITIS; AUTOINFLAMMATION; IMMUNODEFICIENCY; HEMATOLOGIC DEFECTS; peripheral neuropathy; stroke to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688; vasculitis due to ADA2 deficiency, MONDO:0014306
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: ada2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alexander Rossor (UCL Institute of Neurology)gene: ADA2 was added gene: ADA2 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA2 were set to 34210540:37584090 Phenotypes for gene: ADA2 were set to VASCULITIS; AUTOINFLAMMATION; IMMUNODEFICIENCY; HEMATOLOGIC DEFECTS; peripheral neuropathy; stroke Penetrance for gene: ADA2 were set to Complete Review for gene: ADA2 was set to GREEN