Research panel - Severe Paediatric Disorders
Gene: ADA2

ADA2 (adenosine deaminase 2)
EnsemblGeneIds (GRCh38): ENSG00000093072
EnsemblGeneIds (GRCh37): ENSG00000093072
OMIM: 607575, Gene2Phenotype
ADA2 is in 9 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ADA2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, 615688 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:15 p.m. | Last Modified: 20 Feb 2020, 5:15 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:15 p.m.
Last Modified: 20 Feb 2020, 5:15 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688
Sneddon syndrome, OMIM:182410

OMIM

607575

Clinvar variants

Variants in ADA2

Penetrance

None

Publications

30847515

Panels with this gene

History Filter Activity

11 Jan 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ADA2 were changed from Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, 615688 to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688; Sneddon syndrome, OMIM:182410

21 Feb 2020, Gel status: 3