Skeletal dysplasia
Gene: WDR35
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
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.
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
Added phenotypes Short-rib thoracic dysplasia 7 with or without polydactyly 614091; Cranioectodermal dysplasia 2 613610 for gene: WDR35
Source NHS GMS was added to WDR35.
Promoted to version 1 9th August 2016
Phenotypes for WDR35 were set to Cranioectodermal dysplasia 2 613610; Short-rib thoracic dysplasia 7 with or without polydactyly 614091
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
WDR35 was created by sleigh
WDR35 was added to Unexplained skeletal dysplasiapanel. Sources: