Hereditary Neuropathy_CMT - isolated
Gene: DYNC1H1EnsemblGeneIds (GRCh38): ENSG00000197102
EnsemblGeneIds (GRCh37): ENSG00000197102
OMIM: 600112, Gene2Phenotype
DYNC1H1 is in 12 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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)
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
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
-
- Motor Neurone Disease
- Fetal anomalies
- Lissencephaly and Band Heterotopia
- Arthrogryposis
- Mendeliome
- Polymicrogyria and Schizencephaly
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
- Callosome
- Genetic Epilepsy
- Cerebral Palsy
- Muscular dystrophy and myopathy_Paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dync1h1 has been classified as Green List (High Evidence).
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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DYNC1H1 were set to
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
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