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Prepair 1000+

Gene: ASL

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

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Autosomal recessive disorder of the urea cycle. Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Two forms of argininosuccinic aciduria have been recognized: an early-onset, or malignant, type and a late-onset type. Early onset form displays features within the first weeks of life. Features of the condition include intellectual and physical disability, convulsions, episodic unconsciousness, liver enlargement, skin lesions, and dry and brittle hair.
Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association
Created: 14 Oct 2024, 4:16 a.m. | Last Modified: 14 Oct 2024, 4:16 a.m.
Panel Version: 1.420

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Argininosuccinic aciduria MIM#207900

Publications

Created: 14 Oct 2024, 4:15 a.m.
Last Modified: 14 Oct 2024, 4:15 a.m.
Panel version: 1.420

History Filter Activity

20 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

20 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: ASL were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Argininosuccinic aciduria, 207900 (3) for gene: ASL

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ASL was added gene: ASL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASL were set to Argininosuccinic aciduria, 207900 (3)