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Limb disorders

Gene: WDR35

No list

WDR35 (WD repeat domain 35)
EnsemblGeneIds (GRCh38): ENSG00000118965
EnsemblGeneIds (GRCh37): ENSG00000118965
OMIM: 613602, Gene2Phenotype
WDR35 is in 16 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.
Created: 2 Dec 2018, 11:16 p.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported in Cranioectodermal dysplasia 2 613610 and 7 variants reported in Short-rib thoracic dysplasia 7 with or without polydactyly 614091. Both phenotypes are relevant to this panel, supportive evidence also provided from a mouse model (PMID 21473986).
Created: 10 Sep 2018, 11:11 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Victorian Clinical Genetics Services
Phenotypes
  • Cranioectodermal dysplasia 2 613610
  • Short-rib thoracic dysplasia 7 with or without polydactyly 614091
OMIM
613602
Clinvar variants
Variants in WDR35
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 0

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Comment when marking as ready:

2 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: wdr35 has been removed from the panel.

2 Dec 2018, Gel status: 0

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Removed was added to WDR35. Rating Changed from Green List (high evidence) to No List (delete)

10 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: wdr35 has been classified as Green List (High Evidence).

10 Sep 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: wdr35 has been classified as Red List (Low Evidence).

10 Sep 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: WDR35 were set to

10 Sep 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: WDR35 were changed from Polydactyly to Cranioectodermal dysplasia 2 613610; Short-rib thoracic dysplasia 7 with or without polydactyly 614091

10 Sep 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: WDR35 was changed from to BIALLELIC, autosomal or pseudoautosomal

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

WDR35 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

WDR35 was created by Ellen McDonagh