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Prepair 1000+

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

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Typically presents in infancy, though later presentations also reported. Variable clinical presentation ranging from acute onset to normal adult (OMIM).
Clinical course of GA1 is unpredictable; correlation between residual activity and phenotypic outcome is not well established (PMID: 37020324).
Created: 22 Jan 2025, 10:56 p.m. | Last Modified: 22 Jan 2025, 10:56 p.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glutaric aciduria, type I, MIM#231670

Publications

Created: 22 Jan 2025, 10:56 p.m.
Last Modified: 22 Jan 2025, 10:56 p.m.
Panel version: 1.1257

History Filter Activity

23 Jan 2025, 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).

23 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GCDH were changed from Glutaricaciduria, type I, 231670 (3) to Glutaric aciduria, type I, MIM#231670

23 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GCDH were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Glutaricaciduria, type I, 231670 (3) for gene: GCDH

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GCDH was added gene: GCDH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GCDH were set to Glutaricaciduria, type I, 231670 (3)