Hyperammonaemia
Gene: ASS1
ASS1 (argininosuccinate synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000130707
EnsemblGeneIds (GRCh37): ENSG00000130707
OMIM: 603470, Gene2Phenotype
ASS1 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000130707
EnsemblGeneIds (GRCh37): ENSG00000130707
OMIM: 603470, Gene2Phenotype
ASS1 is in 7 panels
2 reviews
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Citrullinemia, classic
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
-
- Citrullinemia 215700
- OMIM
- 603470
- Clinvar variants
- Variants in ASS1
- 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 Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ASS1 were set to Citrullinemia 215700
17 Aug 2016, Gel status: 4
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for ASS1 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
Set publications
Richard Scott (Genomics England Curator)Publications for ASS1 were set to 2358466
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).
5 May 2015, Gel status: 2
Added New Source
Eik Haraldsdottir (Genomics England)ASS1 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory
5 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)ASS1 was added to Hyperammonaemiapanel. Sources: UKGTN