Hyperammonaemia
Gene: ASLEnsemblGeneIds (GRCh38): ENSG00000126522
EnsemblGeneIds (GRCh37): ENSG00000126522
OMIM: 608310, Gene2Phenotype
ASL is in 9 panels
3 reviews
Peter Clayton (UCL Institute of Child Health)
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 groupsCreated: 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
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
Set publications
Sarah Leigh (Genomics England Curator)Publications for ASL were set to 2263616; 12408190
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ASL were set to Argininosuccinic aciduria 207900
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for ASL was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Richard Scott (Genomics England Curator)Publications for ASL were set to 2263616
Added New Source
Eik Haraldsdottir (Genomics England)ASL was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory
Added New Source
Eik Haraldsdottir (Genomics England)ASL was added to Hyperammonaemiapanel. Sources: UKGTN