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Inborn errors of metabolism

Gene: CLDN16

Green List (high evidence)

CLDN16 (claudin 16)
EnsemblGeneIds (GRCh38): ENSG00000113946
EnsemblGeneIds (GRCh37): ENSG00000113946
OMIM: 603959, Gene2Phenotype
CLDN16 is in 7 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with phenotype in OMIM and not in Gen2Phen. At least 19 variants identified in unrelated cases.
Created: 12 Aug 2019, 1:49 p.m. | Last Modified: 12 Aug 2019, 1:49 p.m.
Panel Version: 1.92
Comment on phenotypes: Renal tract calcification (or Nephrolithiasis/nephrocalcinosis);Hypomagnesaemia type 3, renal (Disorder of magnesium metabolism)
Created: 12 Aug 2019, 1:47 p.m. | Last Modified: 12 Aug 2019, 1:47 p.m.
Panel Version: 1.91

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hypomagnesemia 3, renal 248250
OMIM
603959
Clinvar variants
Variants in CLDN16
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cldn16 has been classified as Green List (High Evidence).

12 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CLDN16 were changed from Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Hypomagnesaemia type 3, renal (Disorder of magnesium metabolism) to Hypomagnesemia 3, renal 248250

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CLDN16. Source London North GLH was added to CLDN16.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CLDN16 was added gene: CLDN16 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CLDN16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLDN16 were set to 27604308 Phenotypes for gene: CLDN16 were set to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Hypomagnesaemia type 3, renal (Disorder of magnesium metabolism)