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Arthrogryposis

Gene: DYNC1H1

Green List (high evidence)

DYNC1H1 (dynein cytoplasmic 1 heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000197102
EnsemblGeneIds (GRCh37): ENSG00000197102
OMIM: 600112, Gene2Phenotype
DYNC1H1 is in 15 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)

Green List (high evidence)

Sources: Other
Created: 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

History Filter Activity

10 Dec 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Expert list was added to DYNC1H1.

10 Dec 2019, Gel status: 3

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

10 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: dync1h1 has been classified as Green List (High Evidence).

10 Dec 2019, Gel status: 0

Removed Source, Added New Source

Rebecca Foulger (Genomics England curator)

Source Other was removed from DYNC1H1. Source NHS GMS was added to DYNC1H1.

10 Dec 2019, Gel status: 0

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

10 Dec 2019, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: DYNC1H1 were set to PMID: 25609763; 25512093; 28554554

6 Dec 2019, Gel status: 0

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