Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: WDR19

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

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Single case reported - associated with sagittal synostosis ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Phenotypes
Cranioectodermal dysplasia type 4- 614378

Created: 5 Mar 2019, 11:33 a.m.

Panel version: 1.47

Eleanor Williams (Genomics England Curator)

I don't know

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: WDR19; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.

Created: 5 Mar 2019, 11:21 a.m.

Panel version: 1.46

Details

Sources

NHS GMS

Phenotypes

Cranioectodermal dysplasia type 4 614378

OMIM

608151

Clinvar variants

Variants in WDR19

Penetrance

None

Panels with this gene

History Filter Activity

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Cranioectodermal dysplasia type 4 614378 for gene: WDR19

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: WDR19 was added gene: WDR19 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: WDR19 was set to

Rare syndromic craniosynostosis or isolated multisuture synostosis Gene: WDR19