Tubulointerstitial kidney disease
Gene: WDR19EnsemblGeneIds (GRCh38): ENSG00000157796
EnsemblGeneIds (GRCh37): ENSG00000157796
OMIM: 608151, Gene2Phenotype
WDR19 is in 20 panels
2 reviews
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
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, 12:28 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted:WDR19;Suggested initial gene rating: Green;Evidence for inclusion: none provided;Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none providedCreated: 2 Feb 2019, 12:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronopthisis 13 MIM 614377; Senior-Loken syndrome 8, MIM 616307; ?Cranioectodermal dysplasia 4, MIM 614378; ?Short-rib thoracic dysplasia 5 with or without polydactyly, MIM 614376
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Nephronopthisis 13 MIM 614377
- ?Cranioectodermal dysplasia 4, MIM 614378
- ?Short-rib thoracic dysplasia 5 with or without polydactyly, MIM 614376
- Senior-Loken syndrome 8, MIM 616307
- OMIM
- 608151
- Clinvar variants
- Variants in WDR19
- Penetrance
- None
- Panels with this gene
-
- Skeletal ciliopathies
- Cystic kidney disease
- Ectodermal dysplasia without a known gene mutation
- Skeletal dysplasia
- Fetal anomalies
- 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
- Clefting
- Ectodermal dysplasia
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: WDR19 was added gene: WDR19 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR19 were set to Nephronopthisis 13 MIM 614377; ?Cranioectodermal dysplasia 4, MIM 614378; ?Short-rib thoracic dysplasia 5 with or without polydactyly, MIM 614376; Senior-Loken syndrome 8, MIM 616307