Amelogenesis imperfecta

Gene: CLDN16

Amber List (moderate evidence)

CLDN16 (claudin 16)
EnsemblGeneIds (GRCh38): ENSG00000113946
EnsemblGeneIds (GRCh37): ENSG00000113946
OMIM: 603959, Gene2Phenotype
CLDN16 is in 9 panels

1 review

Rebecca Foulger (Genomics England curator)

PMID:26426912 found homozygous or compound heterozygous CLDN16 mutations in 5 unrelated patients with FHHNC and amelogenesis imperfecta (AI)- all mutations are predicted to be pathogenic, and at least one has previously-confirmed pathogenicity. They also present a mouse model where CLDN16 deficiency leads to enamel phenotype resembling human AI.
12 Jun 2017, 9:11 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis (FHHNC)
OMIM
603959
Clinvar variants
Variants in CLDN16
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Feb 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith

2 Feb 2018, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

2 Feb 2018, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

12 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CLDN16 was added to Amelogenesis Imperfectapanel. Sources: Literature

12 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

CLDN16 was created by rfoulger