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Structural eye disease v0.76 PDE6H Nicola Ragge reviewed gene: PDE6H: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Achromatopsia 6, 610024; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.48 PDE6H Ivone Leong edited their review of gene: PDE6H: Changed phenotypes: Achromatopsia 6, 610024
Structural eye disease v0.38 PDE6H Ivone Leong reviewed gene: PDE6H: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472, Retinal disease in Usher syndrome type IIA, modifier of, 276901; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Structural eye disease v0.15 PDE6H Ivone Leong Source NHS GMS was added to PDE6H.
Mode of inheritance for gene PDE6H was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Achromatopsia 6, 610024 for gene: PDE6H
Structural eye disease v0.2 PDE6H Ellen McDonagh gene: PDE6H was added
gene: PDE6H was added to Structural eye disease. Sources: Expert Review Red
Mode of inheritance for gene: PDE6H was set to
Phenotypes for gene: PDE6H were set to Eye Disorders