Thoracic dystrophies

Gene: WDR60

Green List (high evidence)

WDR60 (WD repeat domain 60)
EnsemblGeneIds (GRCh38): ENSG00000126870
EnsemblGeneIds (GRCh37): ENSG00000126870
OMIM: 615462, Gene2Phenotype
WDR60 is in 14 panels

4 reviews

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

Green List (high evidence)

Phenotypes
JATD

Hannah Mitchison (UCL and GOSH)

Green List (high evidence)

Phenotypes
JATD

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Feedback from Hannah Mitchison that this gene should be green.
Created: 31 May 2017, 8:28 a.m.

Helen Brittain (Genomics England Curator)

I don't know

Two unrelated cases to date
Created: 26 May 2017, 7:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short-rib thoracic dysplasia 8 with or without polydactyly, 615503
  • Jeune Asphyxiating Thoracic Dystrophy
OMIM
615462
Clinvar variants
Variants in WDR60
Penetrance
Complete
Panels with this gene

History Filter Activity

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 Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for WDR60 was changed to BIALLELIC, autosomal or pseudoautosomal

31 May 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for WDR60 were set to Short-rib thoracic dysplasia 8 with or without polydactyly, 615503;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).

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

WDR60 was added to Thoracic dystrophiespanel. Sources: Radboud University Medical Center, Nijmegen