Renal and urinary tract disorders
Gene: WDR19EnsemblGeneIds (GRCh38): ENSG00000157796
EnsemblGeneIds (GRCh37): ENSG00000157796
OMIM: 608151, Gene2Phenotype
WDR19 is in 20 panels
3 reviews
Eleanor Williams (Genomics England Curator)
Comment on list classification: Promoted to green after discussion with Genomics England clinical team about the renal element of the phenotype.Created: 28 Mar 2019, 2:15 p.m.
Comment from Genomics England clinical team: Although this gene is associated with a syndromic presentation, it is appropriate for inclusion in the Cystic kidney disease source panel due to the renal element of the phenotype.Created: 28 Mar 2019, 2:14 p.m.
Ellen Thomas (Genomics England Curator)
Comment on list classification: Syndromic - not relevant for this panel.Created: 10 May 2016, 1:11 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- Nephronophthisis 13
- Senior-Loken
- OMIM
- 608151
- Clinvar variants
- Variants in WDR19
- Penetrance
- None
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Tubulointerstitial kidney disease
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Skeletal ciliopathies
- Ectodermal dysplasia
- Clefting
- Limb disorders
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Unexplained kidney failure in young people
- Intellectual disability
- Ectodermal dysplasia without a known gene mutation
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: WDR19 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 13; Senior-Loken
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: WDR19 were set to
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: WDR19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: wdr19 has been classified as Green List (High Evidence).
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Miranda Durkie: No current test experience but
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Ciliopathy genes associated with cystic kidney disease for gene: WDR19
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: WDR19 was added gene: WDR19 was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: WDR19 was set to Unknown Phenotypes for gene: WDR19 were set to Ciliopathy genes associated with cystic kidney disease