| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.32 | ADSL | Bryony Thompson Phenotypes for gene: ADSL were changed from Adenylosuccinase deficiency MIM#103050 to Adenylosuccinase deficiency MIM#103050; disorder of purine metabolism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.21 | ADSL | Bryony Thompson Marked gene: ADSL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.21 | ADSL | Bryony Thompson Gene: adsl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.21 | ADSL | Bryony Thompson Classified gene: ADSL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.21 | ADSL | Bryony Thompson Gene: adsl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.20 | ADSL |
Bryony Thompson 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 Added comment: 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 GMS |
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