Renal tubulopathies
Gene: WNK1
Comment on list classification: Changing rating from red to amber as two cases (both with deletions) have been reported.Created: 5 Sep 2019, 10:36 p.m. | Last Modified: 5 Sep 2019, 10:36 p.m.
Panel Version: 1.185
Comment on phenotypes: Removed a phenotype that I think is not relevant to this panel.Created: 5 Sep 2019, 10:35 p.m. | Last Modified: 5 Sep 2019, 10:35 p.m.
Panel Version: 1.183
Associated with Pseudohypoaldosteronism, type IIC (#614492) in OMIM,
PMID: 11498583 - Wilson et al - 2001 - in one large family with 10 members affected by pseudohypoaldosteronism type II they identified a 41-kb deletion in intron 1 of WNK1 that segregated with the disease. In another family previously described by Disse-Nicodeme et al. (2000), they identified a 22-kb deletion within intron 1 of WNK1. Functional studies showed this deletion increased the expression of WNK1.Created: 2 Sep 2019, 1:45 p.m. | Last Modified: 2 Sep 2019, 1:45 p.m.
Panel Version: 1.82
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: WNK1; 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 provided; Other Comments: PHAIIC AD, HSAN2A not relevantCreated: 3 Feb 2019, 11:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pseudohypoaldosteronism, type IIC, MIM 614492; Neuropathy, hereditary sensory and autonomic, type II, MIM 201300 (AR)
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: WNK1 were changed from Pseudohypoaldosteronism, type IIC, 614492 to Pseudohypoaldosteronism, type IIC, OMIM:614492
Gene: wnk1 has been classified as Amber List (Moderate Evidence).
Publications for gene: WNK1 were set to
Phenotypes for gene: WNK1 were changed from Pseudohypoaldosteronism, type IIC, 614492; Neuropathy, hereditary sensory and autonomic, type II, 201300 (AR) to Pseudohypoaldosteronism, type IIC, 614492
Mode of inheritance for gene: WNK1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WNK1 were changed from to Pseudohypoaldosteronism, type IIC, 614492; Neuropathy, hereditary sensory and autonomic, type II, 201300 (AR)
gene: WNK1 was added gene: WNK1 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: WNK1 was set to