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  3. ASL
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Aminoacidopathy

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified Definitive by ClinGen Aminoacidopathy GCEP on 15/09/2018 - https://search.clinicalgenome.org/CCID:004186

Established gene-disease association with reported individuals having an inborn error of argininosuccinate lyase metabolism.
Sources: ClinGen
Created: 23 May 2024, 1 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
argininosuccinic aciduria MONDO:0008815

Publications

Created: 23 May 2024, 1 a.m.

Panel version: 1.9

History Filter Activity

23 May 2024, 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).

23 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ASL were set to 2263616, 17326097, 19703900, 12559843, 22081021

23 May 2024, 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).

23 May 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: ASL was added gene: ASL was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASL were set to 2263616, 17326097, 19703900, 12559843, 22081021 Phenotypes for gene: ASL were set to argininosuccinic aciduria MONDO:0008815 Review for gene: ASL was set to GREEN