Renal tubulopathies

Gene: CUL3

Green List (high evidence)

Comment on list classification: Changing rating from red to green. More than 3 cases reported.

Created: 4 Sep 2019, 9:22 p.m. | Last Modified: 4 Sep 2019, 9:22 p.m.

Panel Version: 1.110

Associated with Pseudohypoaldosteronism, type IIE 614496 in OMIM

PMID: 22266938 - Boyden et al 2012 - used exome sequencing to study a cohort of 52 PHAII kindreds, including 126 affected subjects with renal hyperkalemia. They identified seventeen with novel heterozygous mutations, all in cases without KLHL3, WNK1 or WNK4 mutations. Eight of these mutations were documented to be de novo.

Created: 30 Aug 2019, 10:37 a.m. | Last Modified: 30 Aug 2019, 10:37 a.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: CUL3; 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

Created: 3 Feb 2019, 11:32 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pseudohypoaldosteronism, type IIE, MIM 214496

Variants in this GENE are reported as part of current diagnostic practice