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| Structural eye disease v0.76 | INPP5E | Nicola Ragge reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: ; Publications: 23386033, 30055837, 23022135; Phenotypes: Joubert syndrome 1, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 213300, 610156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | INPP5E | Ivone Leong reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: ; Publications: 23386033, 30055837, 23022135; Phenotypes: Joubert syndrome 1, 213300, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | INPP5E |
Ivone Leong Source NHS GMS was added to INPP5E. Source Expert Review Green was added to INPP5E. Added phenotypes Joubert syndrome 1, 213300; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 for gene: INPP5E Publications for gene INPP5E were changed from 23386033; 26748598 to 30055837; 23386033; 23022135 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Structural eye disease v0.2 | INPP5E |
Ellen McDonagh gene: INPP5E was added gene: INPP5E was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPP5E were set to 23386033; 26748598 Phenotypes for gene: INPP5E were set to Joubert syndrome |
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