Structural eye disease
Gene: FZD4
Kartchner one family with microphthalmia; zhang one case with colobomaCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Exudative vitreoretinopathy 1; 133780
Publications
Promoted from red to amber based on the expert review provided.Created: 25 Apr 2019, 10:04 a.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Kartchner one family with microphthalmia; zhang one case with colobomaCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Exudative vitreoretinopathy 1, 133780
Publications
Source Expert Review Amber was added to FZD4. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source NHS GMS was added to FZD4. Mode of inheritance for gene FZD4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Exudative vitreoretinopathy 1, 133780 for gene: FZD4 Publications for gene FZD4 were changed from to 30882657; 28413837
gene: FZD4 was added gene: FZD4 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: FZD4 was set to Phenotypes for gene: FZD4 were set to Eye Disorders