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Callosome

Gene: GCDH

Red List (low 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)

Red List (low evidence)

Structural brain abnormalities are not a prominent feature of this disorder.
Created: 29 Sep 2022, 10:41 a.m. | Last Modified: 29 Sep 2022, 10:41 a.m.
Panel Version: 0.469

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glutaric aciduria, type I MIM#231670

History Filter Activity

29 Sep 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gcdh has been classified as Red List (Low Evidence).

29 Sep 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Sep 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GCDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

29 Sep 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gcdh has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GCDH was added gene: GCDH was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GCDH was set to Unknown