Skeletal dysplasia
Gene: WDR35EnsemblGeneIds (GRCh38): ENSG00000118965
EnsemblGeneIds (GRCh37): ENSG00000118965
OMIM: 613602, Gene2Phenotype
WDR35 is in 17 panels
3 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Cilliopathies with major skeletal involvement gp of SDs. splice variants described in Ellis-Van Creveld syndrome. green - many recessive variants identified; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia 2 613610; Short-rib thoracic dysplasia 7 with or without polydactyly 614091
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: WDR35; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 1Created: 17 Jun 2016, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia 2 613610; Short-rib thoracic dysplasia 7 with or without polydactyly 614091
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Short-rib thoracic dysplasia 7 with or without polydactyly 614091
- Cranioectodermal dysplasia 2 613610
- 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
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Short-rib thoracic dysplasia 7 with or without polydactyly 614091; Cranioectodermal dysplasia 2 613610 for gene: WDR35
Added New Source
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to WDR35.
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for WDR35 were set to Cranioectodermal dysplasia 2 613610; Short-rib thoracic dysplasia 7 with or without polydactyly 614091
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)WDR35 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen WDR35 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services WDR35 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory Model of inheritance for gene WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Created
Sarah Leigh (Genomics England Curator)WDR35 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)WDR35 was added to Unexplained skeletal dysplasiapanel. Sources: