Diagnostic testing for Glutaric acidaemia I
Gene: GCDH

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

GCDH has been added to the panel for R449 Diagnostic testing for Glutaric acidaemia I with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 29 May 2024, 11:36 a.m. | Last Modified: 29 May 2024, 11:36 a.m.

Panel Version: 0.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 29 May 2024, 11:36 a.m.
Last Modified: 29 May 2024, 11:36 a.m.
Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Glutaricaciduria, type I, OMIM:231670

OMIM

608801

Clinvar variants

Variants in GCDH

Penetrance

None

Panels with this gene

History Filter Activity

29 May 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to GCDH. Rating Changed from Red List (low evidence) to Green List (high evidence)

24 May 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: GCDH was added gene: GCDH was added to Diagnostic testing for Glutaric acidaemia I. Sources: NHS GMS Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GCDH were set to Glutaricaciduria, type I, OMIM:231670

Diagnostic testing for Glutaric acidaemia I Gene: GCDH