Structural eye disease
Gene: PDZD7
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
Usher syndrome, type IIC, GPR98/PDZD7 digenic; Retinal disease in Usher syndrome type IIA, modifier of; 605472; 276901
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
Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472; Retinal disease in Usher syndrome type IIA, modifier of, 276901
Source NHS GMS was added to PDZD7. Mode of inheritance for gene PDZD7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472; Retinal disease in Usher syndrome type IIA, modifier of, 276901 for gene: PDZD7
gene: PDZD7 was added gene: PDZD7 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: PDZD7 was set to Phenotypes for gene: PDZD7 were set to Eye Disorders