Structural eye disease
Gene: CDH3
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectodermal dysplasia, ectrodactyly, and macular dystrophy; Hypotrichosis, congenital, with juvenile macular dystrophy; 225280; 601553
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, 601553
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to CDH3. Mode of inheritance for gene CDH3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 for gene: CDH3
gene: CDH3 was added gene: CDH3 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: CDH3 was set to Phenotypes for gene: CDH3 were set to Eye Disorders