Rare multisystem ciliopathy disorders
Gene: WDR35EnsemblGeneIds (GRCh38): ENSG00000118965
EnsemblGeneIds (GRCh37): ENSG00000118965
OMIM: 613602, Gene2Phenotype
WDR35 is in 17 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Mutations identified in 2 families with cranioectodermal dysplasia and two families with short-rib thoracic dysplasia. Both recognised on G2P. Testing offered on GOS ciliopathy panelCreated: 19 Jan 2017, 3:41 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Other
- Orphanet
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Cranioectodermal dysplasia 2, 613610
- Short-rib thoracic dysplasia 7 with or without polydactyly, 614091
- Cranioectodermal dysplasia
- Short-rib thoracic dysplasia 7 with or without polydactyly
- OMIM
- 613602
- Clinvar variants
- Variants in WDR35
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- DDG2P
- Clefting
- Osteogenesis imperfecta
- Ectodermal dysplasia
- Ductal plate malformation
- Skeletal ciliopathies
- Ectodermal dysplasia without a known gene mutation
- Skeletal dysplasia
- Fetal anomalies
- 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
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Upload gene information
Ellen McDonagh (Genomics England Curator)WDR35 was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)WDR35 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
Added New Source
Ellen McDonagh (Genomics England Curator)WDR35 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
Upload gene information
Ellen McDonagh (Genomics England Curator)WDR35 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
Upload gene information
Ellen McDonagh (Genomics England Curator)WDR35 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
Upload gene information
Ellen McDonagh (Genomics England Curator)WDR35 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene WDR35 were set to Cranioectodermal dysplasia 2, 613610;Short-rib thoracic dysplasia 7 with or without polydactyly, 614091
Added New Source
Ellen McDonagh (Genomics England Curator)WDR35 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)WDR35 was created by ellenmcdonagh