Hereditary Neuropathy_CMT - isolated
Gene: DYNC1H1
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
Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228
Publications
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 GOFCreated: 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
Mode of pathogenicity
Other
Gene: dync1h1 has been classified as Green List (High Evidence).
Phenotypes for gene: DYNC1H1 were changed from HMSN, dHMN/dSMA; Spinal muscular atrophy, lower extremity predominant, AD, 158600; Mental retardation, autosomal dominant 13, 614563; Charcot Marie Tooth disease, axonal, type 20, 614228 to Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228
Publications for gene: DYNC1H1 were set to
Mode of inheritance for gene: DYNC1H1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: DYNC1H1 was added gene: DYNC1H1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DYNC1H1 were set to HMSN, dHMN/dSMA; Spinal muscular atrophy, lower extremity predominant, AD, 158600; Mental retardation, autosomal dominant 13, 614563; Charcot Marie Tooth disease, axonal, type 20, 614228