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Structural eye disease

Gene: CLDN19

Green List (high evidence)

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

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

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

17 Apr 2019, Gel status: 4

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

3 Jan 2019, Gel status: 4

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