Nephrocalcinosis or nephrolithiasis
Gene: CLDN16
CLDN16 (claudin 16)
EnsemblGeneIds (GRCh38): ENSG00000113946
EnsemblGeneIds (GRCh37): ENSG00000113946
OMIM: 603959, Gene2Phenotype
CLDN16 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000113946
EnsemblGeneIds (GRCh37): ENSG00000113946
OMIM: 603959, Gene2Phenotype
CLDN16 is in 7 panels
2 reviews
Fiona Karet (Universit y of Cambridge)
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
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Phenotypes
-
- Hypomagnesemia 3, renal, OMIM:248250
- OMIM
- 603959
- Clinvar variants
- Variants in CLDN16
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
7 Nov 2025, Gel status: 3
Set Phenotypes
Ida Ertmanska (Genomics England Curator)Phenotypes for gene: CLDN16 were changed from Hypomagnesemia 3, renal to Hypomagnesemia 3, renal, OMIM:248250
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