GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: WDR19

WDR19 (WD repeat domain 19)
EnsemblGeneIds (GRCh38): ENSG00000157796
EnsemblGeneIds (GRCh37): ENSG00000157796
OMIM: 608151, Gene2Phenotype
WDR19 is in 20 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Cilliopathies with major skeletal involvement gp of SDs - only a couple of cases reported with skeletal phenotype? Variants also identified in nephronophthisis 13; Senior-Loken syndrome 8; Review on behalf of Tracy Lester/Michael Oldridge
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Short-rib thoracic dysplasia 5 with or without polydactyly, 614376; Cranioectodermal dysplasia 4, 614378

Publications

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

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
NHS GMS

Phenotypes

Cranioectodermal dysplasia 4, 614378
Short-rib thoracic dysplasia 5 with or without polydactyly, 614376

OMIM

608151

Clinvar variants

Variants in WDR19

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 2

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

Eleanor Williams (Genomics England Curator)

gene: WDR19 was added gene: WDR19 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR19 were set to Cranioectodermal dysplasia 4, 614378; Short-rib thoracic dysplasia 5 with or without polydactyly, 614376

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: WDR19