Hereditary ataxia
Gene: DYNC1H1
DYNC1H1 (dynein cytoplasmic 1 heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000197102
EnsemblGeneIds (GRCh37): ENSG00000197102
OMIM: 600112, Gene2Phenotype
DYNC1H1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000197102
EnsemblGeneIds (GRCh37): ENSG00000197102
OMIM: 600112, Gene2Phenotype
DYNC1H1 is in 13 panels
1 review
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Not sure about this - ataxia seems a very rare part of phenotypeCreated: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Charcot Marie Tooth, SMA, Intellectual disability
- OMIM
- 600112
- Clinvar variants
- Variants in DYNC1H1
- Penetrance
- Complete
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Neurodegenerative disorders, adult onset
- Ataxia and cerebellar anomalies - childhood onset
- Arthrogryposis
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Hereditary neuropathy
- Paediatric motor neuronopathies
- DDG2P
- Malformations of cortical development
- Hereditary ataxia, adult onset
- Hereditary ataxia
- Fetal anomalies
History Filter Activity
29 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
29 Jun 2016, Gel status: 1
Set Phenotypes
emma baple (Genomics England Curator)Phenotypes for DYNC1H1 were set to Charcot Marie Tooth, SMA, Intellectual disability
6 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)DYNC1H1 was added to Hereditary ataxiapanel. Sources: Illumina TruGenome Clinical Sequencing Services