Structural basal ganglia disorders
Gene: IVDEnsemblGeneIds (GRCh38): ENSG00000128928
EnsemblGeneIds (GRCh37): ENSG00000128928
OMIM: 607036, Gene2Phenotype
IVD is in 11 panels
2 reviews
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: 6 Mar 2017, 2:37 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Isovaleric acidemia 243500
- OMIM
- 607036
- Clinvar variants
- Variants in IVD
- Penetrance
- Complete
- Panels with this gene
-
- Structural basal ganglia disorders
- Undiagnosed metabolic disorders
- Fetal anomalies
- Adult onset dystonia, chorea or related movement disorder
- Intellectual disability
- Ketotic hypoglycaemia
- Childhood onset dystonia, chorea or related movement disorder
- Diagnostic testing for Isovaleric acidaemia
- DDG2P
- Likely inborn error of metabolism
- Hyperammonaemia
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
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 Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for IVD were set to Isovaleric acidemia 243500
Created
Manju Kurian (UCL-Institute of Child Health)IVD was created by Manju
Added New Source
Manju Kurian (UCL-Institute of Child Health)IVD was added to Structural basal ganglia disorderspanel. Sources: Literature