Adult onset neurodegenerative disorder
Gene: DYNC1H1EnsemblGeneIds (GRCh38): ENSG00000197102
EnsemblGeneIds (GRCh37): ENSG00000197102
OMIM: 600112, Gene2Phenotype
DYNC1H1 is in 13 panels
3 reviews
Oliver Ziff (University College London)
Causes SMA-LED. While often childhood-onset, it can present or remain undiagnosed until adulthood, mimicking LMN-variant MND. Needs inclusion in R460.1 to avoid R78 reanalysis.Created: 22 May 2026, 1:32 p.m. | Last Modified: 22 May 2026, 1:32 p.m.
Panel Version: 9.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot Marie Tooth disease, axonal, type 20, 614228; Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Onset in early childhoodCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Charcot Marie Tooth, SMA, Intellectual disability
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Yorkshire and North East GLH
- Expert Review Red
- Phenotypes
-
- Charcot Marie Tooth, SMA, Intellectual disability
- OMIM
- 600112
- Clinvar variants
- Variants in DYNC1H1
- Penetrance
- None
- Panels with this gene
-
- Malformations of cortical development
- Arthrogryposis
- Paediatric motor neuronopathies
- Hereditary ataxia with onset in adulthood
- Adult onset neurodegenerative disorder
- DDG2P
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Intellectual disability
- Hereditary ataxia
- Fetal anomalies
- Hereditary neuropathy
- Early onset or syndromic epilepsy
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to DYNC1H1.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to DYNC1H1.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Gene awaiting curator evaluati
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: DYNC1H1 was added gene: DYNC1H1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DYNC1H1 were set to Charcot Marie Tooth, SMA, Intellectual disability