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Structural eye disease v0.76 | TPP1 | Nicola Ragge reviewed gene: TPP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 2, 204500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.48 | TPP1 | Ivone Leong edited their review of gene: TPP1: Changed phenotypes: CEROID LIPOFUSCINOSIS, NEURONAL, 2, 204500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | TPP1 | Ivone Leong reviewed gene: TPP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Bardet-Biedl syndrome 11, 615988, Muscular dystrophy, limb-girdle, type 2H, 254110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | TPP1 |
Ivone Leong Source NHS GMS was added to TPP1. Mode of inheritance for gene TPP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, 2, 204500 for gene: TPP1 |
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Structural eye disease v0.2 | TPP1 |
Ellen McDonagh gene: TPP1 was added gene: TPP1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TPP1 was set to Phenotypes for gene: TPP1 were set to Eye Disorders |