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| Structural eye disease v0.76 | ERCC1 | Nicola Ragge reviewed gene: ERCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 17273966; Phenotypes: Cerebrooculofacioskeletal syndrome 4 (includes microphthalmia), 610758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.75 | ERCC1 | Ivone Leong commented on gene: ERCC1: Promoted from red to amber based on the expert review provided. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.74 | ERCC1 |
Ivone Leong Source Expert Review Amber was added to ERCC1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Structural eye disease v0.38 | ERCC1 | Ivone Leong reviewed gene: ERCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 17273966; Phenotypes: Cerebrooculofacioskeletal syndrome 4 (includes microphthalmia), 610758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | ERCC1 |
Ivone Leong Source NHS GMS was added to ERCC1. Mode of inheritance for gene ERCC1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cerebrooculofacioskeletal syndrome 4 (includes microphthalmia), 610758 for gene: ERCC1 Publications for gene ERCC1 were changed from to 17273966 |
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| Structural eye disease v0.2 | ERCC1 |
Ellen McDonagh gene: ERCC1 was added gene: ERCC1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ERCC1 was set to Phenotypes for gene: ERCC1 were set to Cerebrooculofacioskeletal syndrome 4, 610758 |
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