Limb disorders
Gene: WDR35EnsemblGeneIds (GRCh38): ENSG00000118965
EnsemblGeneIds (GRCh37): ENSG00000118965
OMIM: 613602, Gene2Phenotype
WDR35 is in 17 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
- Tags
- OMIM
- 613602
- Clinvar variants
- Variants in WDR35
- Penetrance
- None
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- DDG2P
- Fetal anomalies
- Clefting
- Osteogenesis imperfecta
- Ectodermal dysplasia
- Ductal plate malformation
- Skeletal ciliopathies
- Ectodermal dysplasia without a known gene mutation
- Skeletal dysplasia
- Thoracic dystrophies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: WDR35.
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Sarah Leigh: Comment when marking as ready:
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: wdr35 has been removed from the panel.
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)
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: wdr35 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: wdr35 has been classified as Red List (Low Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: WDR35 were set to
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
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: WDR35 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)WDR35 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)WDR35 was created by Ellen McDonagh