Ectodermal dysplasia without a known gene mutation
Gene: WDR19EnsemblGeneIds (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.
John McGrath (King's College London)
Cranioectdermal dysplasia sounds like an ED but isn't reallyCreated: 19 Nov 2015, 3:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Asphyxiating thoracic dystrophy 5, 614376
- Nephronophthisis 13, 614377
- Cranioectodermal dysplasia 4, 614378
- Cranioectodermal Dysplasia
- OMIM
- 608151
- Clinvar variants
- Variants in WDR19
- Penetrance
- Complete
- Panels with this gene
-
- Thoracic dystrophies
- Primary ciliary disorders
- Cystic kidney disease
- Retinal disorders
- Tubulointerstitial kidney disease
- Fetal anomalies
- Skeletal ciliopathies
- Limb disorders
- Skeletal dysplasia
- Renal ciliopathies
- Clefting
- Ophthalmological ciliopathies
- Dystonia, chorea or related movement disorder, childhood onset
- Unexplained kidney failure in young people
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Ectodermal dysplasia without a known gene mutation
- Ectodermal dysplasia
- DDG2P
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 10th August 2016
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)WDR19 was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)WDR19 was added to Ectodermal dysplasia without a known gene mutationpanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)WDR19 was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Radboud University Medical Center, Nijmegen