Cerebral Palsy

Gene: SCN8A

Green List (high evidence)

3 additional individuals with mono-allelic P/LP variants (1 stopgain, 2 missense) reported in large-scale exome sequencing study (PMID: 38693247).

Created: 27 May 2024, 12:55 p.m. | Last Modified: 27 May 2024, 12:55 p.m.

Panel Version: 1.194

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy 13 MIM# 614558; Cognitive impairment with or without cerebellar ataxia MIM# 614306

Publications

• 38693247

Green List (high evidence)

3 individuals reported in CP cohort with mono-allelic (2x de novo & 1 unknown inheritance) SCN8A variants.

SCN8A variants have a wide phenotypic spectrum including CP-like phenotype: movement impairments, ataxia/ dyskinesia, ID, delayed speech and seizures.

Note: Variants in SCN8A are associated with multiple neurological phenotypes through varying mechanisms (LoF and GoF) and MOIs

Created: 27 Sep 2021, 11:59 p.m. | Last Modified: 27 Sep 2021, 11:59 p.m.

Panel Version: 0.162

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cerebral Palsy; Epileptic encephalopathy 13 MIM# 614558; Cognitive impairment with or without cerebellar ataxia MIM# 614306

Publications

• 33528536
• 32989326
• 31904124

Mode of pathogenicity
Other