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| Structural eye disease v0.76 | PPT1 | Nicola Ragge reviewed gene: PPT1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 1, 256730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | PPT1 | Ivone Leong edited their review of gene: PPT1: Changed phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 1, 256730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | PPT1 | Ivone Leong reviewed gene: PPT1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 36, 610599; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | PPT1 |
Ivone Leong Source NHS GMS was added to PPT1. Mode of inheritance for gene PPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, 1, 256730 for gene: PPT1 |
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| Structural eye disease v0.2 | PPT1 |
Ellen McDonagh gene: PPT1 was added gene: PPT1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: PPT1 was set to Phenotypes for gene: PPT1 were set to Eye Disorders |
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