Ataxia and cerebellar anomalies - narrow panel
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
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Charcot Marie Tooth, SMA, Intellectual disability
- OMIM
- 600112
- Clinvar variants
- Variants in DYNC1H1
- Penetrance
- None
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy
- Paediatric motor neuronopathies
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Fetal anomalies
- Arthrogryposis
- Hereditary ataxia
- Early onset or syndromic epilepsy
History Filter Activity
9 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Comment on list classification
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: DYNC1H1 was added gene: DYNC1H1 was added to Ataxia and cerebellar anomalies - narrow panel. 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