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| Structural eye disease v0.76 | CRB1 | Nicola Ragge reviewed gene: CRB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 21484995, 23077403; Phenotypes: Leber congenital amaurosis 8, Retinitis pigmentosa-12, autosomal recessive, Pigmented paravenous chorioretinal atrophy, 613835, 600105; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.75 | CRB1 | Ivone Leong commented on gene: CRB1: Promoted from red to amber based on the expert review provided. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.74 | CRB1 |
Ivone Leong Source Expert Review Amber was added to CRB1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Structural eye disease v0.38 | CRB1 | Ivone Leong reviewed gene: CRB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 21484995, 23077403; Phenotypes: Leber congenital amaurosis 8, 613835, Retinitis pigmentosa-12, autosomal recessive, 600105, Pigmented paravenous chorioretinal atrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | CRB1 |
Ivone Leong Source NHS GMS was added to CRB1. Mode of inheritance for gene CRB1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa-12, autosomal recessive, 600105; Pigmented paravenous chorioretinal atrophy; Leber congenital amaurosis 8, 613835 for gene: CRB1 Publications for gene CRB1 were changed from to 23077403; 21484995 |
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| Structural eye disease v0.2 | CRB1 |
Ellen McDonagh gene: CRB1 was added gene: CRB1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: CRB1 was set to Phenotypes for gene: CRB1 were set to Eye Disorders |
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