1. Panels
  2. Thoracic dystrophies
  3. WDR34
STRs in panel
Prev Next
Regions in panel
Prev Next

Thoracic dystrophies

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

5 reviews

Catherine Snow (Genomics England)

Added new-gene-name tag, new approved HGNC gene symbol for WDR34 is DYNC2I2
Created: 7 May 2020, 12:43 p.m. | Last Modified: 7 May 2020, 12:43 p.m.
Panel Version: 1.7
Created: 7 May 2020, 12:43 p.m.
Last Modified: 7 May 2020, 12:43 p.m.
Panel version: 1.7

Melita Irving (Guy's and St Thomas' NHS Trust)

Green List (high evidence)

Phenotypes
JATD

Created: 31 May 2017, 9:18 a.m.

Panel version: 0.124

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

Phenotypes
JATD

Created: 31 May 2017, 9:10 a.m.

Panel version: 0.124

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Confirmed with Hannah Mitchison this should be green.
Created: 31 May 2017, 8:24 a.m.
Created: 31 May 2017, 8:24 a.m.

Panel version: 0.108

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Several cases with biallelic mutations. Above PMID Schmidts et al report early lethality due to severe respiratory phenotype. Therefore appropriate for inclusion.
Created: 25 May 2017, 1:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 25 May 2017, 1:33 p.m.

Panel version: 0.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short-rib thoracic dysplasia 11 with or without polydactyly, 615633
  • Jeune Asphyxiating Thoracic Dystrophy
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.

31 May 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.

31 May 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for WDR34 were set to Short-rib thoracic dysplasia 11 with or without polydactyly, 615633;Jeune Asphyxiating Thoracic Dystrophy

31 May 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

31 May 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

30 May 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for WDR34 were set to 24183451

30 May 2017, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for WDR34 was changed to BIALLELIC, autosomal or pseudoautosomal

30 May 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

30 May 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

WDR34 was added to Thoracic dystrophiespanel. Sources: Radboud University Medical Center, Nijmegen