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| Structural eye disease v0.76 | AIPL1 | Nicola Ragge reviewed gene: AIPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 25148430; Phenotypes: Cone-rod dystrophy, Leber congenital amaurosis 4, Retinitis pigmentosa, juvenile, 604393, 604393, 604393; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.75 | AIPL1 | Ivone Leong commented on gene: AIPL1: Promoted from red to amber based on the expert review provided. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.74 | AIPL1 |
Ivone Leong Source Expert Review Amber was added to AIPL1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Structural eye disease v0.38 | AIPL1 | Ivone Leong reviewed gene: AIPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 25148430; Phenotypes: Cone-rod dystrophy, Leber congenital amaurosis 4, 604393, Retinitis pigmentosa, juvenile; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | AIPL1 |
Ivone Leong Source NHS GMS was added to AIPL1. Mode of inheritance for gene AIPL1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cone-rod dystrophy; Retinitis pigmentosa, juvenile; Leber congenital amaurosis 4, 604393 for gene: AIPL1 Publications for gene AIPL1 were changed from to 25148430 |
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| Structural eye disease v0.2 | AIPL1 |
Ellen McDonagh gene: AIPL1 was added gene: AIPL1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: AIPL1 was set to Phenotypes for gene: AIPL1 were set to Eye Disorders |
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