Miscellaneous Metabolic Disorders
Gene: ADAEnsemblGeneIds (GRCh38): ENSG00000196839
EnsemblGeneIds (GRCh37): ENSG00000196839
OMIM: 608958, Gene2Phenotype
ADA is in 13 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Well-established cause of disease (see OMIM). Biallelic variants cause an inborn error in purine metabolism.
Sources: NHS GMSCreated: 22 Jan 2021, 5:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adenosine deaminase deficiency, partial MIM#102700; Severe combined immunodeficiency due to ADA deficiency MIM#102700
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Adenosine deaminase deficiency, partial MIM#102700
- Severe combined immunodeficiency due to ADA deficiency MIM#102700
- disorder of purine metabolism
- OMIM
- 608958
- Clinvar variants
- Variants in ADA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Nucleotide metabolism disorders
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- Severe Combined Immunodeficiency (absent T absent B cells)
- Inflammatory bowel disease
- BabyScreen+ newborn screening
- Cataract
- Prepair 500+
History Filter Activity
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: ADA were changed from Adenosine deaminase deficiency, partial MIM#102700; Severe combined immunodeficiency due to ADA deficiency MIM#102700 to Adenosine deaminase deficiency, partial MIM#102700; Severe combined immunodeficiency due to ADA deficiency MIM#102700; disorder of purine metabolism
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ada has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ada 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: ADA was added gene: ADA was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADA were set to 3475710; 3684597; 2783588; 1680289 Phenotypes for gene: ADA were set to Adenosine deaminase deficiency, partial MIM#102700; Severe combined immunodeficiency due to ADA deficiency MIM#102700 Review for gene: ADA was set to GREEN gene: ADA was marked as current diagnostic