Renal tubulopathies
Gene: WNK4
Comment on list classification: Changing rating from red to green as > 3 cases reportedCreated: 5 Sep 2019, 10:38 p.m. | Last Modified: 5 Sep 2019, 10:38 p.m.
Panel Version: 1.188
Associated with Pseudohypoaldosteronism, type IIB #614491 in OMIM.
PMID: 11498583 - Wilson et al. 2001 - Examination of WNK4 in PHAII kindreds identified four missense mutations, all of which cosegregated with the disease.Three of these are charge-changing substitutions that cluster in a span of four amino acids within a negatively charged 10-amino acid segment that is highly conserved among all members of the WNK family in human as well as orthologs in mouse and ratCreated: 2 Sep 2019, 1:28 p.m. | Last Modified: 5 Sep 2019, 10:37 p.m.
Panel Version: 1.185
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: WNK4; 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: 3 Feb 2019, 11:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pseudohypoaldosteronism, type IIB, MIM 614491
Variants in this GENE are reported as part of current diagnostic practice
Gene: wnk4 has been classified as Green List (High Evidence).
Publications for gene: WNK4 were set to
Mode of inheritance for gene: WNK4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WNK4 were changed from to Pseudohypoaldosteronism, type IIB, 614491
gene: WNK4 was added gene: WNK4 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: WNK4 was set to