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Miscellaneous Metabolic Disorders v1.23 ASL Zornitza Stark Tag treatable tag was added to gene: ASL.
Miscellaneous Metabolic Disorders v0.54 ASL Bryony Thompson Marked gene: ASL as ready
Miscellaneous Metabolic Disorders v0.54 ASL Bryony Thompson Gene: asl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.54 ASL Bryony Thompson Classified gene: ASL as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.54 ASL Bryony Thompson Gene: asl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.53 ASL Bryony Thompson gene: ASL was added
gene: ASL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASL were set to 2263616; 12384776
Phenotypes for gene: ASL were set to Argininosuccinic aciduria MIM#207900; Urea cycle disorders and inherited hyperammonaemias; disorder of amino acid metabolism
Review for gene: ASL was set to GREEN
gene: ASL 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