Arthrogryposis
Gene: DYNC1H1Comment 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
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
Source Expert list was added to DYNC1H1.
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
Gene: dync1h1 has been classified as Green List (High Evidence).
Source Other was removed from DYNC1H1. Source NHS GMS was added to DYNC1H1.
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
Publications for gene: DYNC1H1 were set to PMID: 25609763; 25512093; 28554554
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