Cerebral Palsy

Gene: CACNA1A

Green List (high evidence)

Additional 4 individuals with mono-allelic P/LP variants (1 frameshift deletion, 1 stopgain, 2 missense) reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical data provided.

Created: 27 May 2024, 4:02 a.m. | Last Modified: 27 May 2024, 4:02 a.m.

Panel Version: 1.193

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy MIM#617106; Episodic ataxia MIM#108500; familial hemiplegic Migraine MIM#141500 and MIM#141500; Spinocerebellar ataxia MIM#183086

Publications

• PMID: 38693247

Green List (high evidence)

Multiple individuals in multiple large CP cohort studies with de novo pathogenic or likely pathogenic CACNA1A mutations. Overlapping phenotypes with known CACNA1A-associated diseases possible.

Created: 23 May 2023, 12:11 a.m. | Last Modified: 23 May 2023, 12:11 a.m.

Panel Version: 1.36

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy MIM#617106; Episodic ataxia MIM#108500; familial hemiplegic Migraine MIM#141500 and MIM#141500; Spinocerebellar ataxia MIM#183086

Publications

• 29761117
• 33528536
• 34364746
• 34531397
• 34788679

I don't know

Variants in this gene cause a range of phenotypes, including hemiplegia, although this tends to be episodic. Reported in a CP cohort.
Sources: Expert Review

Created: 18 Sep 2021, 6:55 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developemental and epileptic encephalopathy 42, MIM# 617106; Episodic ataxia, type 2, MIM# 108500; Migraine, familial hemiplegic, 1, MIM# 141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500; Spinocerebellar ataxia 6, MIM# 183086

Publications

• 29761117