White matter disorders - adult onset

Gene: GCDH

No list

GCDH (glutaryl-CoA dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000105607
EnsemblGeneIds (GRCh37): ENSG00000105607
OMIM: 608801, Gene2Phenotype
GCDH is in 12 panels

1 review

Zornitza Stark (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.
Sources: Expert list
Created: 21 Jun 2020, 6:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glutaric aciduria, type I 231670

Publications

History Filter Activity

21 Jun 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: GCDH was added gene: GCDH was added to White matter disorders - adult onset. Sources: Expert list Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCDH were set to 15985591 Phenotypes for gene: GCDH were set to Glutaric aciduria, type I 231670 Review for gene: GCDH was set to AMBER