Leukodystrophy - adult onset

Gene: GCDH

Amber List (moderate evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated individuals reported with late-onset neurological disease including leukodystrophy. Note typical GA Type I has onset before the age of 2 years, and leukodystrophy is not a prominent feature.
Created: 27 Apr 2020, 6:18 a.m. | Last Modified: 27 Apr 2020, 6:18 a.m.
Panel Version: 0.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glutaric aciduria, type I 231670

Publications

History Filter Activity

27 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gcdh has been classified as Amber List (Moderate Evidence).

27 Apr 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GCDH were changed from Glutaricaciduria, type I, MIM#231670 to Glutaric aciduria, type I, MIM#231670

27 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gcdh has been classified as Amber List (Moderate Evidence).

30 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 Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GCDH were set to Glutaricaciduria, type I, MIM#231670