Cerebral Palsy
Gene: GCDH
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
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
Phenotypes for gene: GCDH were changed from Glutaricaciduria, type I MIM#231670 to Glutaric aciduria, type I MIM#231670
Publications for gene: GCDH were set to 30542205; 26593172
Gene: gcdh has been classified as Green List (High Evidence).
Gene: gcdh has been classified as Amber List (Moderate Evidence).
Gene: gcdh has been classified as Amber List (Moderate Evidence).
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