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  3. GCDH
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Aminoacidopathy

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)

Classified Definitive by ClinGen Aminoacidopathy GCEP on 08/11/2019 - https://search.clinicalgenome.org/CCID:004934

Well established gene-disease association.
Affected individuals present with abnormal glutaric acid, 3-hydroxy-glutaric acid, glutaconic acid and glutarylcarnitine.
c.91+5G>T has been reported to segregate closely within closely related Native American kindreds.
Sources: ClinGen
Created: 3 Jun 2024, 6:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
glutaryl-CoA dehydrogenase deficiency MONDO:0009281

Publications

Created: 3 Jun 2024, 6:21 a.m.

Panel version: 1.47

History Filter Activity

7 Jun 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).

7 Jun 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).

3 Jun 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: GCDH was added gene: GCDH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCDH were set to 31536184, 7795610, 27476540, 31062211 Phenotypes for gene: GCDH were set to glutaryl-CoA dehydrogenase deficiency MONDO:0009281