Cystic kidney disease
Gene: WDR19EnsemblGeneIds (GRCh38): ENSG00000157796
EnsemblGeneIds (GRCh37): ENSG00000157796
OMIM: 608151, Gene2Phenotype
WDR19 is in 20 panels
3 reviews
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Comment on list classification: Promoted to green following further discussion with Ellen Thomas. Although this gene is associated with a syndromic presentation, it is appropriate for inclusion in this panel due to the renal element of the phenotype.Created: 28 Mar 2019, 12:26 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
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- Nephronophthisis 13, Senior-Loken
- OMIM
- 608151
- Clinvar variants
- Variants in WDR19
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ectodermal dysplasia without a known gene mutation
- Skeletal dysplasia
- Thoracic dystrophies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Limb disorders
- Tubulointerstitial kidney disease
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Fetal anomalies
- Clefting
- Ectodermal dysplasia
- Skeletal ciliopathies
- Cystic kidney disease
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 to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Gene: wdr19 has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)WDR19 was added to Cystic kidney diseasepanel. Sources: Expert