Motor Neurone Disease

Gene: DYNC1H1

Red List (low evidence)

Childhood onset, included in Hereditary Neuropathy_Isolated panel.

Created: 28 Sep 2020, 5:12 a.m. | Last Modified: 28 Sep 2020, 5:12 a.m.

Panel Version: 0.99

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinal muscular atrophy, lower extremity-predominant 1, AD, MIM# 158600

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

Comment on list classification: SMA is a motor neuron disease

Created: 15 Jan 2020, 3:53 a.m. | Last Modified: 15 Jan 2020, 3:53 a.m.

Panel Version: 0.47