Ectodermal dysplasia

Gene: WDR19

Red List (low evidence)

WDR19 (WD repeat domain 19)
EnsemblGeneIds (GRCh38): ENSG00000157796
EnsemblGeneIds (GRCh37): ENSG00000157796
OMIM: 608151, Gene2Phenotype
WDR19 is in 23 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.

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

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