Arthrogryposis
Gene: DYNC1H1EnsemblGeneIds (GRCh38): ENSG00000197102
EnsemblGeneIds (GRCh37): ENSG00000197102
OMIM: 600112, Gene2Phenotype
DYNC1H1 is in 13 panels
2 reviews
Rebecca Foulger (Genomics England curator)
Comment on list classification: Set rating as Green based on gene addition and review by Julie Vogt (West Midlands, Oxford and Wessex GLH).Created: 10 Dec 2019, 10:13 a.m. | Last Modified: 10 Dec 2019, 10:13 a.m.
Panel Version: 2.112
This gene was added to the panel by Julie Vogt, Dec 6 2019 on behalf of the GMS Neurology Specialist Test Group. Gene Symbol submitted: DYNC1H1 ; Suggested initial gene rating: Green; Evidence for inclusion: PMIDs:25609763, 25512093, 28554554.Created: 10 Dec 2019, 9:42 a.m. | Last Modified: 10 Dec 2019, 9:42 a.m.
Panel Version: 2.108
Julie Vogt (West Midlands Regional Genetics Service)
Sources: OtherCreated: 6 Dec 2019, 5:03 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
arthrogryposis; spinal muscular atrophy with lower extremity predominance; neuronal migration abnormalities
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert list
- Expert Review Green
- NHS GMS
- Phenotypes
-
- arthrogryposis
- neuronal migration abnormalities
- Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600
- OMIM
- 600112
- Clinvar variants
- Variants in DYNC1H1
- Penetrance
- None
- Publications
- 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
- Arthrogryposis
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
History Filter Activity
Added New Source
Rebecca Foulger (Genomics England curator)Source Expert list was added to DYNC1H1.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: DYNC1H1 were changed from arthrogryposis; Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 to arthrogryposis; neuronal migration abnormalities; Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: dync1h1 has been classified as Green List (High Evidence).
Removed Source, Added New Source
Rebecca Foulger (Genomics England curator)Source Other was removed from DYNC1H1. Source NHS GMS was added to DYNC1H1.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: DYNC1H1 were changed from arthrogryposis; spinal muscular atrophy with lower extremity predominance to arthrogryposis; Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: DYNC1H1 were set to PMID: 25609763; 25512093; 28554554
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Julie Vogt (West Midlands Regional Genetics Service)gene: DYNC1H1 was added gene: DYNC1H1 was added to Arthrogryposis. Sources: Other Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DYNC1H1 were set to PMID: 25609763; 25512093; 28554554 Phenotypes for gene: DYNC1H1 were set to arthrogryposis; spinal muscular atrophy with lower extremity predominance Review for gene: DYNC1H1 was set to GREEN gene: DYNC1H1 was marked as current diagnostic