Nephrocalcinosis or nephrolithiasis

Gene: CLDN16

Green List (high evidence)

CLDN16 (claudin 16)
EnsemblGeneIds (GRCh38): ENSG00000113946
EnsemblGeneIds (GRCh37): ENSG00000113946
OMIM: 603959, Gene2Phenotype
CLDN16 is in 8 panels

2 reviews

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review, and multiple family/case reports in OMIM for multiple different variants for association with hypomagnesemia 3, renal (which includes nephrocalcinosis, progressive renal insufficiency, nephrolithiasis, renal calcium wasting).
Created: 20 May 2016, 9:23 a.m.

Details

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 publications

Ellen McDonagh (Genomics England Curator)

Publications for CLDN16 were set to

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: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 May 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CLDN16 were set to Hypomagnesemia 3, renal

8 May 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

CLDN16 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert