Genetic Epilepsy

Gene: DYNC1H1

Green List (high evidence)

At least 3 unrelated families reported.

Note variants in this gene also cause ID, and Spinal muscular atrophy, lower extremity-predominant. These likely represent a continuum of central/peripheral involvement rather than distinct disorders.

Created: 28 May 2021, 9:48 a.m. | Last Modified: 28 May 2021, 9:48 a.m.

Panel Version: 0.193

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cortical dysplasia, complex, with other brain malformations 13, MIM# 614563

Publications

• 21820100
• 32788638
• 27549087

Green List (high evidence)

CMT - Single missense reported (H306R) in a 4-gen family. H306R also reported in a SMA patient (OMM)

- clustering of SMA mutations within the N-terminal dimerization domain
- ID mutations found throughout the protein but cluster within the MT binding stalk, AAA repeats and linker region. Functional study showed the missense with the most severe defects caused ID, while weaker defects cause SMA

There is intrafamilial variation in phenotype

Missense cause both LOF and GOF

Created: 29 Mar 2020, 10:36 p.m. | Last Modified: 29 Mar 2020, 10:36 p.m.

Panel Version: 0.1842

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 20; Mental retardation, autosomal dominant 13; Spinal muscular atrophy, lower extremity-predominant 1

Publications

• PMID: 25512093
• 28196890

Mode of pathogenicity
Other