Renal tubulopathies
Gene: KLHL3
Comment on list classification: Changing rating from red to green as more than 3 cases reported.Created: 5 Sep 2019, 3:52 p.m. | Last Modified: 5 Sep 2019, 3:52 p.m.
Panel Version: 1.134
Associated with Pseudohypoaldosteronism, type IID 614495 in OMIM.
Many reports of cases in OMIM. Both monoallelic and biallelic.
PMID: 22266938 - Boyden et al 2012 - report on a cohort of 52 PHAII kindreds including 126 affected subjects with renal hyperkalemia and otherwise normal renal function; hypertension and acidosis were present in 71% and 82%, respectively. They identified both dominant and recessive mutations in the KLHL3 gene.
PMID: 22406640 - Louis-Dit-Picard et al 2012 - report missense mutations in the KLHL3 gene in affected individuals from 16 families with hyperkalemic hypertension (out of 45 investigated). The variants were present in heterozygosity in 12 of the families and in homozygosity in 4.Created: 31 Aug 2019, 4:42 p.m. | Last Modified: 5 Sep 2019, 3:51 p.m.
Panel Version: 1.131
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: KLHL3; 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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Pseudohypoaldosteronism, type IID, MIM 614495
Variants in this GENE are reported as part of current diagnostic practice
Gene: klhl3 has been classified as Green List (High Evidence).
Publications for gene: KLHL3 were set to
Mode of inheritance for gene: KLHL3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KLHL3 were changed from to Pseudohypoaldosteronism, type IID, 614495
gene: KLHL3 was added gene: KLHL3 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: KLHL3 was set to