Dystonia - complex

Gene: GCDH

Green List (high evidence)

GCDH (glutaryl-CoA dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000105607
EnsemblGeneIds (GRCh37): ENSG00000105607
OMIM: 608801, Gene2Phenotype
GCDH is in 17 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

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

History Filter Activity

10 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gcdh has been classified as Green List (High Evidence).

10 Dec 2024, Gel status: 3

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

10 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GCDH were set to

29 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: GCDH.

27 Dec 2019, Gel status: 3

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