Cerebral Palsy

Gene: GCDH

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

• PMID: 38693247

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

• 30542205
• 26593172
• 25280894
• 30271473
• 35822093