Miscellaneous Metabolic Disorders
Gene: ASL
Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMSCreated: 26 Jan 2021, 7 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Argininosuccinic aciduria MIM#207900; Urea cycle disorders and inherited hyperammonaemias; disorder of amino acid metabolism
Publications
Variants in this GENE are reported as part of current diagnostic practice
Intellectual disability is a feature of this metabolic condition.
Sources: Expert listCreated: 23 Nov 2019, 8:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Argininosuccinic aciduria, MIM#207900
Tag treatable tag was added to gene: ASL.
Gene: asl has been classified as Green List (High Evidence).
Gene: asl has been classified as Green List (High Evidence).
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