This Panel is marked as Internal
Groopman et al 2019 - Genes with diagnostic variants
Gene: WDR19
WDR19 (WD repeat domain 19)
EnsemblGeneIds (GRCh38): ENSG00000157796
EnsemblGeneIds (GRCh37): ENSG00000157796
OMIM: 608151, Gene2Phenotype
WDR19 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000157796
EnsemblGeneIds (GRCh37): ENSG00000157796
OMIM: 608151, Gene2Phenotype
WDR19 is in 20 panels
1 review
Eleanor Williams (Genomics England Curator)
From Groopman et al 2019 Table S7. Gene symbol: WDR19; Inheritance: AR; Clinical diagnosis: Congenital or cystic renal disease; Genetic diagnosis: Nephronophthisis 13; OMIM phenotype MIM no.: 614377; Number of cases: 1 (compound heterozygous)Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert review red
- Literature
- Phenotypes
-
- Congenital or cystic renal disease
- MIM 614377
- Nephronophthisis 13
- OMIM
- 608151
- Clinvar variants
- Variants in WDR19
- Penetrance
- None
- Panels with this gene
-
- Ophthalmological ciliopathies
- Limb disorders
- Fetal anomalies
- DDG2P
- Ectodermal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Tubulointerstitial kidney disease
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Unexplained kidney failure in young people
- Retinal disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Ectodermal dysplasia without a known gene mutation
- Intellectual disability
- Thoracic dystrophies
- Primary ciliary disorders
- Skeletal dysplasia
- Skeletal ciliopathies
- Clefting
History Filter Activity
2 Jul 2019, Gel status: 1
Added New Source
Eleanor Williams (Genomics England Curator)Source Expert Review Red was added to WDR19.
2 Jul 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: WDR19 was added gene: WDR19 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR19 were set to Congenital or cystic renal disease; MIM 614377; Nephronophthisis 13