Hyperammonaemia

Gene: ASL

Green List (high evidence)

ASL (argininosuccinate lyase)
EnsemblGeneIds (GRCh38): ENSG00000126522
EnsemblGeneIds (GRCh37): ENSG00000126522
OMIM: 608310, Gene2Phenotype
ASL is in 8 panels

3 reviews

Peter Clayton (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Argininosuccinic aciduria

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM and G2P. At least six homozygous variants reported by two groups
Created: 17 Aug 2016, 2 p.m.

Ellen McDonagh (Genomics England Curator)

Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.
Created: 5 Nov 2015, 5:19 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Argininosuccinic aciduria 207900
OMIM
608310
Clinvar variants
Variants in ASL
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Nov 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 on 22nd November 2016

17 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ASL were set to 2263616; 12408190

17 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ASL were set to Argininosuccinic aciduria 207900

17 Aug 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for ASL was changed to BIALLELIC, autosomal or pseudoautosomal

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Dec 2015, Gel status: 2

Set publications

Richard Scott (Genomics England Curator)

Publications for ASL were set to 2263616

5 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

ASL was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory

5 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

ASL was added to Hyperammonaemiapanel. Sources: UKGTN