Ketotic hypoglycaemia
Gene: IVD
IVD (isovaleryl-CoA dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000128928
EnsemblGeneIds (GRCh37): ENSG00000128928
OMIM: 607036, Gene2Phenotype
IVD is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000128928
EnsemblGeneIds (GRCh37): ENSG00000128928
OMIM: 607036, Gene2Phenotype
IVD is in 11 panels
2 reviews
Alexander Broomfield (Central Manchester Foundation Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Sourced from expert, OMIM, and Gene2Phenotype.Created: 7 Jun 2016, 3:10 p.m.
Comment on list classification: Gene added by reviewer and rated as green for inclusion on this panel. It is a confirmed DD gene for isovaleric acidemia, and has multiple cases for different variants reported on OMIM.Created: 7 Jun 2016, 2:56 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.
- OMIM
- 607036
- Clinvar variants
- Variants in IVD
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Ketotic hypoglycaemia
- Diagnostic testing for Isovaleric acidaemia
- Hyperammonaemia
- Fetal anomalies
History Filter Activity
8 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
7 Jun 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for IVD was changed to BIALLELIC, autosomal or pseudoautosomal
7 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Apr 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
19 Oct 2015, Gel status: 0
Added New Source
Alexander Broomfield (Central Manchester Foundation Trust)IVD was added to Ketotic hypoglycaemiapanel. Sources: Literature