Nephrocalcinosis or nephrolithiasis

Gene: CLDN19

Green List (high evidence)

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

2 reviews

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hypomagensemia with nephrocalcinosis

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review and evidence in databases. It is a confirmed DD gene for hypomagnesemia 5, renal, with ocular involvement. Multiple reports in OMIM, for 3 different variants.
Created: 20 May 2016, 9:37 a.m.
Comment on mode of inheritance: Confirmed by Reviewer, G2P, OMIM.
Created: 20 May 2016, 9:36 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • hypomagensemia with nephrocalcinosis
  • Hypomagnesemia 5, renal, with ocular involvement
OMIM
610036
Clinvar variants
Variants in CLDN19
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CLDN19 were set to hypomagensemia with nephrocalcinosis; Hypomagnesemia 5, renal, with ocular involvement

20 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CLDN19 were set to PMID: 17033971

20 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 May 2016, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

8 May 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

CLDN19 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert