Inborn errors of metabolismGene: ADA
This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 30 variants reported associated with Adenosine deaminase deficiency.
Created: 22 Aug 2019, 4:02 p.m. | Last Modified: 22 Aug 2019, 4:02 p.m.
Panel Version: 1.255
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Adenosine deaminase deficiency, partial 102700; Severe combined immunodeficiency due to ADA deficiency 102700; Combined B and T cell defect; SCID; Infantile enterocolitis & monogenic inflammatory bowel disease
Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 12 May 2018, 9:06 a.m.
Gene: ada has been classified as Green List (High Evidence).
Source NHS GMS was added to ADA. Source London North GLH was added to ADA.
Sarah Leigh: Associated with relevant pheno
gene: ADA was added gene: ADA was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA were set to 27604308 Phenotypes for gene: ADA were set to Combined B and T cell defect; Adenosine deaminase deficiency (Disorders of purine metabolism); SCID; Infantile enterocolitis & monogenic inflammatory bowel disease