| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v1.23 | ASS1 | Zornitza Stark Tag treatable tag was added to gene: ASS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.58 | ASS1 | Bryony Thompson Marked gene: ASS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.58 | ASS1 | Bryony Thompson Gene: ass1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.58 | ASS1 | Bryony Thompson Classified gene: ASS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.58 | ASS1 | Bryony Thompson Gene: ass1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.57 | ASS1 |
Bryony Thompson gene: ASS1 was added gene: ASS1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASS1 were set to 19006241 Phenotypes for gene: ASS1 were set to Citrullinemia MIM#215700; Urea cycle disorders and inherited hyperammonaemias; disorder of amino acid metabolism Review for gene: ASS1 was set to GREEN gene: ASS1 was marked as current diagnostic Added comment: Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association (see OMIM entry). Sources: NHS GMS |
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