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  3. DYNC2H1
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Skeletal ciliopathies

Gene: DYNC2H1

Green List (high evidence)
DYNC2H1 (dynein cytoplasmic 2 heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000187240
EnsemblGeneIds (GRCh37): ENSG00000187240
OMIM: 603297, Gene2Phenotype
DYNC2H1 is in 15 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Offered on GOS ciliopathy panel
Created: 19 Jan 2017, 2:34 p.m.
Created: 19 Jan 2017, 2:34 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.395

Ellen McDonagh (Genomics England Curator)

Comment on list classification: More than 3 cases/families reported. Is a green gene on the Unexplained skeletal dysplasia Version 1.3 gene panel.
Created: 13 Dec 2016, 1:59 p.m.
Created: 13 Dec 2016, 1:59 p.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.366

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
OMIM
603297
Clinvar variants
Variants in DYNC2H1
Penetrance
None
Panels with this gene

History Filter Activity

28 Feb 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DYNC2H1 were changed from Short-rib thoracic dysplasia 3 with or without polydactyly; Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel; Jeune syndrome; Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 to Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091

10 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: DYNC2H1 was added gene: DYNC2H1 was added to Skeletal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly; Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel; Jeune syndrome; Short-rib thoracic dysplasia 3 with or without polydactyly, 613091