Amelogenesis imperfectaGene: CLDN16
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.
Created: 12 Jun 2017, 9:11 a.m.
This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
CLDN16 was created by rfoulger
CLDN16 was added to Amelogenesis Imperfectapanel. Sources: Literature