Renal tubulopathies

Gene: CLDN19

Green List (high evidence)

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

Created: 4 Sep 2019, 9:04 p.m. | Last Modified: 4 Sep 2019, 9:04 p.m.

Panel Version: 1.106

Comment on publications: Publications added from OMIM

Created: 4 Sep 2019, 8:59 p.m. | Last Modified: 4 Sep 2019, 8:59 p.m.

Panel Version: 1.105

Associated with Hypomagnesemia 5, renal, with ocular involvement 248190 in OMIM.

Many cases reported in OMIM, but note some cases have the same variant - likely founder effect.

Created: 30 Aug 2019, 10:28 a.m. | Last Modified: 4 Sep 2019, 9:20 p.m.

Panel Version: 1.107

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: CLDN19; 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
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypomagnesemia 5, renal, with ocular involvement, MIM 248190

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