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Hair 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: Imported from Mendeliome panel version Imported from Miscellaneous Metabolic Disorders panel version 0.53

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Trichorrhexis nodosa; dry brittle hair.
Sources: Expert list
Created: 23 Nov 2019, 8:22 a.m. | Last Modified: 5 Oct 2022, 7:43 a.m.
Panel Version: 0.62

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Argininosuccinic aciduria, MIM#207900

Created: 23 Nov 2019, 8:22 a.m.
Last Modified: 5 Oct 2022, 7:43 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
  • Literature
  • Expert list
  • Victorian Clinical Genetics Services
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

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ASL were changed from Argininosuccinic aciduria, 207900 to Argininosuccinic aciduria MIM#207900; Urea cycle disorders and inherited hyperammonaemias; disorder of amino acid metabolism

5 Oct 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ASL were set to 31332722

5 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: ASL.

28 Jul 2020, Gel status: 3

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 Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASL were set to 31332722 Phenotypes for gene: ASL were set to Argininosuccinic aciduria, 207900