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  3. DYNC2H1
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Rare multisystem ciliopathy disorders

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: 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: 0.366

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Orphanet
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091
OMIM
603297
Clinvar variants
Variants in DYNC2H1
Penetrance
Complete
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, 613091; Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel; Jeune syndrome; Short-rib thoracic dysplasia 3 with or without polydactyly to Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091

26 Jan 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

19 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

13 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Nov 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

DYNC2H1 was added to Rare multisystem ciliopathy disorderspanel. Source: Other

25 Nov 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

DYNC2H1 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet

25 Nov 2016, Gel status: 3

Upload gene information

Ellen McDonagh (Genomics England Curator)

DYNC2H1 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN

25 Nov 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

25 Nov 2016, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

DYNC2H1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory

25 Nov 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

DYNC2H1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen

25 Nov 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly, 613091

5 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DYNC2H1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DYNC2H1 was created by ellenmcdonagh