Nephrocalcinosis or nephrolithiasis
Gene: CLDN19EnsemblGeneIds (GRCh38): ENSG00000164007
EnsemblGeneIds (GRCh37): ENSG00000164007
OMIM: 610036, Gene2Phenotype
CLDN19 is in 12 panels
2 reviews
Fiona Karet (Universit y of Cambridge)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hypomagensemia with nephrocalcinosis
Publications
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review and evidence in databases. It is a confirmed DD gene for hypomagnesemia 5, renal, with ocular involvement. Multiple reports in OMIM, for 3 different variants.Created: 20 May 2016, 9:37 a.m.
Comment on mode of inheritance: Confirmed by Reviewer, G2P, OMIM.Created: 20 May 2016, 9:36 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Phenotypes
-
- hypomagensemia with nephrocalcinosis
- Hypomagnesemia 5, renal, with ocular involvement
- OMIM
- 610036
- Clinvar variants
- Variants in CLDN19
- Penetrance
- Complete
- Publications
-
- PMID: 17033971
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Nephrocalcinosis or nephrolithiasis
- Likely inborn error of metabolism
- Ductal plate malformation
- DDG2P
- Amelogenesis imperfecta
- Renal tubulopathies
- Structural eye disease
- Ocular coloboma
- Intellectual disability
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CLDN19 were set to hypomagensemia with nephrocalcinosis; Hypomagnesemia 5, renal, with ocular involvement
Set publications
Ellen McDonagh (Genomics England Curator)Publications for CLDN19 were set to PMID: 17033971
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CLDN19 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Eik Haraldsdottir (Genomics England)CLDN19 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert