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  3. WDR34
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Rare multisystem ciliopathy disorders

Gene: WDR34

Green List (high evidence)
WDR34 (WD repeat domain 34)
EnsemblGeneIds (GRCh38): ENSG00000119333
EnsemblGeneIds (GRCh37): ENSG00000119333
OMIM: 613363, Gene2Phenotype
WDR34 is in 11 panels

2 reviews

Catherine Snow (Genomics England)

Added new-gene-name tag, new approved HGNC gene symbol for WDR34 is DYNC2I2
Created: 7 May 2020, 12:50 p.m. | Last Modified: 7 May 2020, 12:50 p.m.
Panel Version: 1.124
Created: 7 May 2020, 12:50 p.m.
Last Modified: 7 May 2020, 12:50 p.m.
Panel version: 1.124

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on list classification: Lots of literature
Created: 19 Jan 2017, 4:45 p.m.
More than 10 reported cases. Recognised on G2P and offered on GOS ciliopathy panel . All missense/in frame
Created: 19 Jan 2017, 4:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 11 with or without polydactyly 615633

Publications

Created: 19 Jan 2017, 4:44 p.m.

Panel version: 0.416

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Orphanet
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Short-rib thoracic dysplasia 11 with or without polydactyly, 615633
  • Jeune syndrome
  • Short-rib thoracic dysplasia 11 with or without polydactyly
Tags
new-gene-name
OMIM
613363
Clinvar variants
Variants in WDR34
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 May 2020, Gel status: 3

Added Tag

Catherine Snow (Genomics England)

Tag new-gene-name tag was added to gene: WDR34.

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).

19 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for WDR34 were set to 24183449

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).

25 Nov 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

WDR34 was added to Rare multisystem ciliopathy disorderspanel. Source: Other

25 Nov 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

WDR34 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet

25 Nov 2016, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

WDR34 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN

25 Nov 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

WDR34 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 WDR34 were set to Short-rib thoracic dysplasia 11 with or without polydactyly, 615633

5 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

WDR34 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

WDR34 was created by ellenmcdonagh