Structural eye disease
Gene: CLDN19
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
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
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
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