SCID
Gene: ADAEnsemblGeneIds (GRCh38): ENSG00000196839
EnsemblGeneIds (GRCh37): ENSG00000196839
OMIM: 608958, Gene2Phenotype
ADA is in 13 panels
6 reviews
Christopher Duncan (Newcastle University)
Kimberly Gilmour (Great Ormond Street Hopsital)
Sophie Hambleton (Newcastle University)
Tracy Briggs (Manchester Genomic Medicine Centre)
Peter Arkwright (Royal Manchester Foundation Trust)
Ellen McDonagh (Genomics England Curator)
Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412Created: 12 May 2018, 9:05 a.m.
Comment on mode of inheritance: Confirmed on OMIM and Gene2Pgenotype. Can also be somatic mosiacism.Created: 20 May 2016, 2 p.m.
Comment on list classification: 5 reviewers agreeing this gene should be green.Created: 20 May 2016, 1:55 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Severe combined immunodeficiency due to ADA deficiency, 102700
- T-B- SCID
- T-B+ SCID
- Tags
- OMIM
- 608958
- Clinvar variants
- Variants in ADA
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Likely inborn error of metabolism
- Gastrointestinal epithelial barrier disorders
- Childhood onset dystonia, chorea or related movement disorder
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Fetal anomalies
- Haematological malignancies cancer susceptibility
- Undiagnosed metabolic disorders
- Severe combined immunodeficiency with adenosine deaminase deficiency
- Autoinflammatory disorders
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ADA was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ADA was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)ADA was added to SCIDpanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ADA was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)ADA was added to SCIDpanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)ADA was added to SCIDpanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN