Newborns main panel
Gene: ASL

ASL (argininosuccinate lyase)
EnsemblGeneIds (GRCh38): ENSG00000126522
EnsemblGeneIds (GRCh37): ENSG00000126522
OMIM: 608310, Gene2Phenotype
ASL is in 9 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Awareness

Additional Information: Pseudogene ASL2 is located about 3 Mb upstream of the ASL gene. It includes exon 3, intron 2, and part of intron 3 of the ASL gene (PMID: 17326097)
Created: 1 Nov 2024, 11:32 a.m. | Last Modified: 1 Nov 2024, 11:32 a.m.

Panel Version: 0.469

Created: 1 Nov 2024, 11:32 a.m.
Last Modified: 1 Nov 2024, 11:32 a.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:39 p.m. | Last Modified: 1 Jun 2023, 2:39 p.m.

Panel Version: 0.137

https://search.clinicalgenome.org/kb/genes/HGNC:746
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Argininosuccinic aciduria

Tags

special_consideration

OMIM

608310

Clinvar variants

Variants in ASL

Penetrance

None

Panels with this gene

History Filter Activity

1 Nov 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: ASL.

14 Sep 2023, Gel status: 3