Amelogenesis imperfecta
Gene: CLDN19
CLDN19 (claudin 19)
EnsemblGeneIds (GRCh38): ENSG00000164007
EnsemblGeneIds (GRCh37): ENSG00000164007
OMIM: 610036, Gene2Phenotype
CLDN19 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000164007
EnsemblGeneIds (GRCh37): ENSG00000164007
OMIM: 610036, Gene2Phenotype
CLDN19 is in 12 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 panelCreated: 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.Created: 12 Jun 2017, 9:12 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
- 610036
- Clinvar variants
- Variants in CLDN19
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Nephrocalcinosis or nephrolithiasis
- Undiagnosed metabolic disorders
- Intellectual disability
- Ductal plate malformation
- Amelogenesis imperfecta
- Renal tubulopathies
- Ocular coloboma
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Structural eye disease
- Likely inborn error of metabolism
- Fetal anomalies
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
Created
Rebecca Foulger (Genomics England curator)CLDN19 was created by rfoulger
12 Jun 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)CLDN19 was added to Amelogenesis Imperfectapanel. Sources: Literature