Primary ciliary disorders

Gene: DYNC2H1

Red List (low evidence)

DYNC2H1 (dynein cytoplasmic 2 heavy chain 1)
EnsemblGeneIds (GRCh38): ENSG00000187240
EnsemblGeneIds (GRCh37): ENSG00000187240
OMIM: 603297, Gene2Phenotype
DYNC2H1 is in 17 panels

2 reviews

Ian Berry (Leeds Genetics Laboratory)

Red List (low evidence)

Gene should be deleted - causes a primary ciliopathy;PCD is a motile ciliopathy, likely unrelated at a functional level.
Created: 8 Dec 2015, 5:33 p.m.


Hannah Mitchison (UCL and GOSH)

This is a ciliopathy but not a Primary Ciliary Disorder gene and should be removed from the panel
Created: 8 Dec 2015, 4:25 p.m.


History Filter Activity

28 Feb 2024, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DYNC2H1 were changed from ciliopathies to Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091

16 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DYNC2H1 was added to Primary ciliary disorderspanel. Sources: Emory Genetics Laboratory