Ocular coloboma
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
1 review
Alice Gardham (Genomics England)
Associated with macular colobomaCreated: 17 Nov 2016, 11:18 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomagnesemia 5, renal, with ocular involvement, 248190
Publications
- 17033971, 500385
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Literature
- Phenotypes
-
- Hypomagnesemia 5, renal, with ocular involvement, 248190
- OMIM
- 610036
- Clinvar variants
- Variants in CLDN19
- Penetrance
- Complete
- Publications
-
- 17033971, 500385
- Panels with this gene
-
- Nephrocalcinosis or nephrolithiasis
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Ductal plate malformation
- Amelogenesis imperfecta
- Renal tubulopathies
- Undiagnosed metabolic disorders
- Ocular coloboma
- Fetal anomalies
- DDG2P
- Structural eye disease
History Filter Activity
6 Feb 2017, Gel status: 3
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 6th February 2016 by Alice Gardham
17 Nov 2016, Gel status: 0
Created
Alice Gardham (Genomics England)CLDN19 was created by agardham
17 Nov 2016, Gel status: 3
Added New Source
Alice Gardham (Genomics England)CLDN19 was added to Ocular colobomapanel. Sources: Literature,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN