Amelogenesis imperfecta

Gene: CLDN19

Amber List (moderate evidence)

CLDN19 (claudin 19)
EnsemblGeneIds (GRCh38): ENSG00000164007
EnsemblGeneIds (GRCh37): ENSG00000164007
OMIM: 610036, Gene2Phenotype
CLDN19 is in 14 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Dr Claire E.L. Smith (St James's University Hospital, Leeds, UK) commented that the authors of PMID:27530400 did not carry out any wider genetic analysis on the patients other than direct sequencing of CLDN16 and CLDN19. Given that they have 3 mutations (although one is very common (>1%) in the population) in 6 families this gene should be included on the Amelogenesis Imperfecta panel
2 Feb 2018, 1:11 p.m.

Rebecca Foulger (Genomics England curator)

PMID:27530400 describe 9 patients (6 Brazilian, 3 French) from 6 unrelated families (3 Brazilian, 3 French) with FHHNC carrying homozygous or compound heterozygous CLDN19 mutations: all patients presented AI at different degrees of severity.
12 Jun 2017, 9:12 a.m.

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: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

12 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CLDN19 was added to Amelogenesis Imperfectapanel. Sources: Literature

12 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

CLDN19 was created by rfoulger