Arthrogryposis
Gene: DYNC1H1EnsemblGeneIds (GRCh38): ENSG00000197102
EnsemblGeneIds (GRCh37): ENSG00000197102
OMIM: 600112, Gene2Phenotype
DYNC1H1 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Phenotypes associated with DYNC1H1 range from spinal muscular atrophy (SMA), hereditary motor and sensory neuropathy (HMSN), cortical malformations, or a combination of these. Multiple families reported where arthrogryposis is a prominent feature.
Sources: Expert listCreated: 11 Jul 2020, 5:22 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228; Mental retardation, autosomal dominant 13, MIM# 614563; Spinal muscular atrophy, lower extremity-predominant 1, MIM# 158600
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228
- Mental retardation, autosomal dominant 13, MIM# 614563
- Spinal muscular atrophy, lower extremity-predominant 1, MIM# 158600
- 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).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dync1h1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DYNC1H1 was added gene: DYNC1H1 was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DYNC1H1 were set to 25609763; 25512093; 28554554 Phenotypes for gene: DYNC1H1 were set to Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228; Mental retardation, autosomal dominant 13, MIM# 614563; Spinal muscular atrophy, lower extremity-predominant 1, MIM# 158600 Review for gene: DYNC1H1 was set to GREEN