Renal tubulopathies

Gene: CLDN19

Green List (high evidence)

CLDN19 (claudin 19)
EnsemblGeneIds (GRCh38): ENSG00000164007
EnsemblGeneIds (GRCh37): ENSG00000164007
OMIM: 610036, Gene2Phenotype
CLDN19 is in 13 panels

1 review

Eleanor Williams (Genomics England Curator)

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

History Filter Activity

4 Sep 2019, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: CLDN19 were set to 17033971; 22422540

4 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: cldn19 has been classified as Green List (High Evidence).

4 Sep 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: CLDN19 were set to

4 Sep 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: CLDN19 was changed from to BIALLELIC, autosomal or pseudoautosomal

17 Jun 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CLDN19 were changed from to Hypomagnesemia 5, renal, with ocular involvement, 248190

3 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: CLDN19 was added gene: CLDN19 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: CLDN19 was set to