Renal tubulopathiesGene: CLDN19
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
Hypomagnesemia 5, renal, with ocular involvement, MIM 248190
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: CLDN19 were set to 17033971; 22422540
Gene: cldn19 has been classified as Green List (High Evidence).
Publications for gene: CLDN19 were set to
Mode of inheritance for gene: CLDN19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN19 were changed from to Hypomagnesemia 5, renal, with ocular involvement, 248190
gene: CLDN19 was added gene: CLDN19 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: CLDN19 was set to