GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: WDR35

WDR35 (WD repeat domain 35)
EnsemblGeneIds (GRCh38): ENSG00000118965
EnsemblGeneIds (GRCh37): ENSG00000118965
OMIM: 613602, Gene2Phenotype
WDR35 is in 17 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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 Oldridge
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cranioectodermal dysplasia 2 613610; Short-rib thoracic dysplasia 7 with or without polydactyly 614091

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Short-rib thoracic dysplasia 7 with or without polydactyly 614091
Cranioectodermal dysplasia 2 613610

OMIM

613602

Clinvar variants

Variants in WDR35

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: WDR35 was added gene: WDR35 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR35 were set to Short-rib thoracic dysplasia 7 with or without polydactyly 614091; Cranioectodermal dysplasia 2 613610

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: WDR35