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  3. ASL
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Miscellaneous Metabolic Disorders

Gene: ASL

Green List (high evidence)
ASL (argininosuccinate lyase)
EnsemblGeneIds (GRCh38): ENSG00000126522
EnsemblGeneIds (GRCh37): ENSG00000126522
OMIM: 608310, Gene2Phenotype
ASL is in 14 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Created: 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

Created: 26 Jan 2021, 7 a.m.

Panel version: 0.53

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Intellectual disability is a feature of this metabolic condition.
Sources: Expert list
Created: 23 Nov 2019, 8:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Argininosuccinic aciduria, MIM#207900

Created: 23 Nov 2019, 8:22 a.m.

Panel version: Imported from Mendeliome panel version Imported from Intellectual Disability syndromic and nonsyndromic_VCGS panel version 0.34

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Argininosuccinic aciduria MIM#207900
  • Urea cycle disorders and inherited hyperammonaemias
  • disorder of amino acid metabolism
Tags
treatable
OMIM
608310
Clinvar variants
Variants in ASL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: ASL.

26 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: asl has been classified as Green List (High Evidence).

26 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: asl has been classified as Green List (High Evidence).

26 Jan 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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