Structural basal ganglia disorders
Gene: GCDHEnsemblGeneIds (GRCh38): ENSG00000105607
EnsemblGeneIds (GRCh37): ENSG00000105607
OMIM: 608801, Gene2Phenotype
GCDH is in 12 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 9 variants reported.Created: 6 Mar 2017, 2:01 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
- OMIM
- 608801
- Clinvar variants
- Variants in GCDH
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- 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
- Early onset dystonia
- Diagnostic testing for Glutaric acidaemia I
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
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 removed from the panel.
Set publications
Sarah Leigh (Genomics England Curator)Publications for GCDH were set to 8900228; 10699052; 8900227; 11174631; 7795610;
Created
Manju Kurian (UCL-Institute of Child Health)GCDH was created by Manju
Added New Source
Manju Kurian (UCL-Institute of Child Health)GCDH was added to Structural basal ganglia disorderspanel. Sources: Literature