Ocular coloboma

Gene: CLDN19

Green List (high evidence)

CLDN19 (claudin 19)
EnsemblGeneIds (GRCh38): ENSG00000164007
EnsemblGeneIds (GRCh37): ENSG00000164007
OMIM: 610036, Gene2Phenotype
CLDN19 is in 13 panels

1 review

Alice Gardham (Genomics England)

Associated with macular coloboma
Created: 17 Nov 2016, 11:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypomagnesemia 5, renal, with ocular involvement, 248190

Publications

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
Panels with this gene

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