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Structural eye disease v0.76 | PDE6B | Nicola Ragge reviewed gene: PDE6B: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Night blindness, congenital stationary, autosomal dominant 2, Retinitis pigmentosa-40, 163500, 613801; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.48 | PDE6B | Ivone Leong edited their review of gene: PDE6B: Changed phenotypes: Night blindness, congenital stationary, autosomal dominant 2, Retinitis pigmentosa-40, 163500, 613801 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | PDE6B | Ivone Leong reviewed gene: PDE6B: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Cone dystrophy 4, 613093; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | PDE6B |
Ivone Leong Source NHS GMS was added to PDE6B. Mode of inheritance for gene PDE6B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa-40; 163500; Night blindness, congenital stationary, autosomal dominant 2; 613801 for gene: PDE6B |
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Structural eye disease v0.2 | PDE6B |
Ellen McDonagh gene: PDE6B was added gene: PDE6B was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: PDE6B was set to Phenotypes for gene: PDE6B were set to Eye Disorders |