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This Panel is marked as Retired
Glutaric acidaemia I
Gene: GCDH
GCDH (glutaryl-CoA dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000105607
EnsemblGeneIds (GRCh37): ENSG00000105607
OMIM: 608801, Gene2Phenotype
GCDH is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000105607
EnsemblGeneIds (GRCh37): ENSG00000105607
OMIM: 608801, Gene2Phenotype
GCDH is in 12 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
GCDH has been added to the panel for R275 Glutaric acidaemia I with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 1:20 p.m. | Last Modified: 30 Jun 2023, 1:20 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- OMIM
- 608801
- Clinvar variants
- Variants in GCDH
- Penetrance
- None
- 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
29 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: GCDH was added gene: GCDH was added to Glutaric acidaemia I. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal