Dystonia - complex
Gene: GCDHEnsemblGeneIds (GRCh38): ENSG00000105607
EnsemblGeneIds (GRCh37): ENSG00000105607
OMIM: 608801, Gene2Phenotype
GCDH is in 17 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
A metabolic disorder characterised by gliosis and neuronal loss in the basal ganglia and a progressive movement disorder. Dystonia isn't a presenting feature in all affected individuals and rather appears in individuals at a later stage during disease progression.Created: 9 Dec 2024, 5:18 a.m. | Last Modified: 9 Dec 2024, 5:18 a.m.
Panel Version: 0.254
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
glutaryl-CoA dehydrogenase deficiency MONDO:0009281
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- glutaryl-CoA dehydrogenase deficiency MONDO:0009281
- Tags
- OMIM
- 608801
- Clinvar variants
- Variants in GCDH
- Penetrance
- None
- Publications
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Macrocephaly_Megalencephaly
- Regression
- Aminoacidopathy
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Prepair 500+
- Callosome
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gcdh has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GCDH were changed from Glutaric aciduria, type 1; Dystonia to glutaryl-CoA dehydrogenase deficiency MONDO:0009281
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GCDH were set to
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: GCDH.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GCDH was added gene: GCDH was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GCDH were set to Glutaric aciduria, type 1; Dystonia