Structural eye disease
Gene: CLDN19EnsemblGeneIds (GRCh38): ENSG00000164007
EnsemblGeneIds (GRCh37): ENSG00000164007
OMIM: 610036, Gene2Phenotype
CLDN19 is in 12 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
DB Konrad et al. 2006: 3 unrelated families with coloboma, other families published since.Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomagnesemia 5, renal, with ocular involvement, 248190
Publications
- 17033971, 500385
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Konrad et al. 2006: 3 unrelated families with coloboma, other families published since.Created: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomagnesemia 5, renal, with ocular involvement, 248190
Publications
- 17033971
- 500385
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Hypomagnesemia 5, renal, with ocular involvement, 248190
- OMIM
- 610036
- Clinvar variants
- Variants in CLDN19
- Penetrance
- None
- Publications
-
- 17033971
- 500385
- 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
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to CLDN19. Added phenotypes Hypomagnesemia 5, renal, with ocular involvement, 248190 for gene: CLDN19 Publications for gene CLDN19 were changed from 17033971, 500385 to 17033971; 500385
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CLDN19 was added gene: CLDN19 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLDN19 were set to 17033971, 500385 Phenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement, 248190