Hyperammonaemia
Gene: IVDEnsemblGeneIds (GRCh38): ENSG00000128928
EnsemblGeneIds (GRCh37): ENSG00000128928
OMIM: 607036, Gene2Phenotype
IVD is in 11 panels
3 reviews
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isovaleric acidemia
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported. Variable phenotypes associated with variant spectrum (PMID 26018748).Created: 21 Nov 2016, 4:15 p.m.
Comment on phenotypes: Phenotype relevant according to Peter Clayton (UCL Institute of Child Health)Created: 21 Nov 2016, 4:02 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
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Isovaleric acidemia 243500
- OMIM
- 607036
- Clinvar variants
- Variants in IVD
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Likely inborn error of metabolism
- Intellectual disability
- Structural basal ganglia disorders
- Undiagnosed metabolic disorders
- Adult onset dystonia, chorea or related movement disorder
- Ketotic hypoglycaemia
- Childhood onset dystonia, chorea or related movement disorder
- Diagnostic testing for Isovaleric acidaemia
- DDG2P
- Hyperammonaemia
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 IVD were set to 26018748; 23587913; 23063737; 24019846
Set publications
Sarah Leigh (Genomics England Curator)Publications for IVD were set to 26018748
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for IVD were set to Isovaleric acidemia 243500
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for IVD were set to Isovaleric acidemia 243500
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for IVD were set to
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for IVD was changed to BIALLELIC, autosomal or pseudoautosomal
Upload gene information
Sarah Leigh (Genomics England Curator)IVD was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Eik Haraldsdottir (Genomics England)IVD was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory