Hereditary Neuropathy_CMT - isolated

Gene: DYNC1H1

Green List (high evidence)

DYNC1H1 (dynein cytoplasmic 1 heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000197102
EnsemblGeneIds (GRCh37): ENSG00000197102
OMIM: 600112, Gene2Phenotype
DYNC1H1 is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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
Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228

Publications

Elena Savva (Victorian Clinical Genetics Services)

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

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228
OMIM
600112
Clinvar variants
Variants in DYNC1H1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dync1h1 has been classified as Green List (High Evidence).

28 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DYNC1H1 were set to

28 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DYNC1H1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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