Ectodermal dysplasia
Gene: WDR19

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted from amber to red due to expert reviewer comments.
Created: 25 Jul 2016, 8:53 a.m.

Please note the suggested mode of inheritance under John McGrath's evaluation was automatically transferred from the original sources and was not provided in his review.
Created: 19 Nov 2015, 3:17 p.m.

Created: 25 Jul 2016, 8:53 a.m.

Panel version: Imported from Ectodermal dysplasia without a known gene mutation panel version 0.83

John McGrath (King's College London)

Red List (low evidence)

Cranioectdermal dysplasia sounds like an ED but isn't really
Created: 19 Nov 2015, 3:06 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 19 Nov 2015, 3:06 p.m.

Panel version: Imported from Ectodermal dysplasia without a known gene mutation panel version 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red

Phenotypes

Cranioectodermal dysplasia 4, 614378
Cranioectodermal Dysplasia
Asphyxiating thoracic dystrophy 5, 614376
Nephronophthisis 13, 614377

OMIM

608151

Clinvar variants

Variants in WDR19

Penetrance

None

Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: WDR19 was added gene: WDR19 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR19 were set to Cranioectodermal dysplasia 4, 614378; Cranioectodermal Dysplasia; Asphyxiating thoracic dystrophy 5, 614376; Nephronophthisis 13, 614377

Ectodermal dysplasia Gene: WDR19