Renal ciliopathies

Gene: WDR19

Green List (high evidence)

WDR19 (WD repeat domain 19)
EnsemblGeneIds (GRCh38): ENSG00000157796
EnsemblGeneIds (GRCh37): ENSG00000157796
OMIM: 608151, Gene2Phenotype
WDR19 is in 24 panels

1 review

Alice Gardham (Genomics England)

2 nephronophthisis families identified, at least 8 families with Senior-Loken identified and one patient with short-rib thoracic dysplasia-5. Recognised on G2P and on GOS ciliopathy panel
Created: 19 Jan 2017, 3:39 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Nephronophthisis 13, 614377
  • ?Short-rib thoracic dysplasia 5 with or without polydactyly
  • Senior-Loken syndrome 8, 616307
  • Cranioectodermal dysplasia
  • ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376
  • Jeune syndrome
  • Senior-Loken syndrome
  • ?Cranioectodermal dysplasia 4, 614378
  • Nephronophthisis
OMIM
608151
Clinvar variants
Variants in WDR19
Penetrance
None
Panels with this gene

History Filter Activity

10 Jul 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: WDR19 was added gene: WDR19 was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Other,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR19 were set to Nephronophthisis 13, 614377; ?Short-rib thoracic dysplasia 5 with or without polydactyly; Senior-Loken syndrome 8, 616307; Cranioectodermal dysplasia; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376; Jeune syndrome; Senior-Loken syndrome; ?Cranioectodermal dysplasia 4, 614378; Nephronophthisis