Renal tubulopathies
Gene: CLDN16
Comment on list classification: Changing rating from red to green. Many cases reported in OMIM.Created: 4 Sep 2019, 8:57 p.m. | Last Modified: 2 Dec 2019, 2:14 p.m.
Panel Version: 1.195
Comment on publications: Publications from OMIM.Created: 4 Sep 2019, 8:57 p.m. | Last Modified: 4 Sep 2019, 8:57 p.m.
Panel Version: 1.102
Associated with Hypomagnesemia 3, renal 248250 in OMIM.
Previous gene symbol of PCLN1.
Many cases reported in OMIM.Created: 30 Aug 2019, 10:26 a.m. | Last Modified: 30 Aug 2019, 10:26 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: CLDN16; 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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomagnesemia 3, renal MIM 248250
Variants in this GENE are reported as part of current diagnostic practice
Gene: cldn16 has been classified as Green List (High Evidence).
Publications for gene: CLDN16 were set to 10390358; 10878661; 16528408; 16501001; 26426912
Publications for gene: CLDN16 were set to
Mode of inheritance for gene: CLDN16 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN16 were changed from to Hypomagnesemia 3, renal 248250
gene: CLDN16 was added gene: CLDN16 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: CLDN16 was set to