Renal tubulopathies

Gene: WNK1

Green List (high evidence)

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 relevant

Created: 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