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Cerebral Palsy

Gene: GCDH

Green List (high evidence)

GCDH (glutaryl-CoA dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000105607
EnsemblGeneIds (GRCh37): ENSG00000105607
OMIM: 608801, Gene2Phenotype
GCDH is in 17 panels

2 reviews

Clare van Eyk (University of Adelaide)

Green List (high evidence)

Additional individual reported with CP and biallelic P/LP variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Created: 14 Jun 2024, 3:55 a.m. | Last Modified: 14 Jun 2024, 3:55 a.m.
Panel Version: 1.283

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glutaricaciduria, type I MIM#231670

Publications

Luisa Weiss (University of Adelaide)

Green List (high evidence)

One larger cohort study on 34 patients with Glutaric Aciduria Type 1 (GA1) that showed that patient diagnosed clinically will develop a CP at school age in 64% (7 out of 11 cases).
In addition, there are several case reports of patients with dystonic, dyskinetic or spastic CP that were diagnosed with biallelic mutations in GCDH and biochemically corresponding features. Also, one case in a larger cohort study of patients with atypical CP (no mutation information given for this patient).
Created: 5 Jun 2023, 1:43 a.m. | Last Modified: 5 Jun 2023, 1:43 a.m.
Panel Version: 1.86

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glutaricaciduria, type I MIM#231670

Publications

History Filter Activity

14 Jun 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Jun 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GCDH were set to 30542205; 26593172

14 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).

30 May 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gcdh has been classified as Amber List (Moderate Evidence).

30 May 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gcdh has been classified as Amber List (Moderate Evidence).

30 May 2023, Gel status: 0

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

Luisa Weiss (University of Adelaide)

gene: GCDH was added gene: GCDH was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCDH were set to 30542205; 26593172 Phenotypes for gene: GCDH were set to Glutaricaciduria, type I MIM#231670 Review for gene: GCDH was set to AMBER