Miscellaneous Metabolic Disorders
Gene: ADSL
Adenylosuccinase deficiency is an autosomal recessive inborn error of purine metabolism caused by an enzymatic defect in de novo purine synthesis (DNPS) pathway. Well-established gene-disease association (see OMIM). Knockout mouse model is homozygous lethal.
Sources: NHS GMSCreated: 22 Jan 2021, 5:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adenylosuccinase deficiency MIM#103050
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: ADSL were changed from Adenylosuccinase deficiency MIM#103050 to Adenylosuccinase deficiency MIM#103050; disorder of purine metabolism
Gene: adsl has been classified as Green List (High Evidence).
Gene: adsl has been classified as Green List (High Evidence).
gene: ADSL was added gene: ADSL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADSL were set to 1302001; 22180458; 18524658; 27626380 Phenotypes for gene: ADSL were set to Adenylosuccinase deficiency MIM#103050 Review for gene: ADSL was set to GREEN gene: ADSL was marked as current diagnostic