Tubulointerstitial kidney disease
Gene: WDR19
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
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
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