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| Structural eye disease v0.76 | ERCC6 | Nicola Ragge reviewed gene: ERCC6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 1, Macular degeneration, age-related, susceptibility to 5, 214150, 613761; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | ERCC6 | Ivone Leong reviewed gene: ERCC6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 1, 214150, Macular degeneration, age-related, susceptibility to 5, 613761; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.28 | ERCC6 | Ivone Leong Phenotypes for gene: ERCC6 were changed from Cerebrooculofacioskeletal Syndrome; Cerebrooculofacioskeletal syndrome 1, 214150; Cockayne syndrome, type B, 133540Cerebrooculofacioskeletal syndrome 1, 214150De Sanctis-Cacchione syndrome, 278800{Macular degeneration, age-related, susceptibility to 5}, 613761UV-sensitive syndrome 1, 600630{Lung cancer, susceptibility to}, 211980; Macular degeneration, age-related, susceptibility to 5, 613761 to Cerebrooculofacioskeletal Syndrome; Cerebrooculofacioskeletal syndrome 1, 214150; Cockayne syndrome, type B, 133540; De Sanctis-Cacchione syndrome, 278800; {Macular degeneration, age-related, susceptibility to 5}, 613761; UV-sensitive syndrome 1, 600630; {Lung cancer, susceptibility to}, 211980 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | ERCC6 |
Ivone Leong Source NHS GMS was added to ERCC6. Added phenotypes Cerebrooculofacioskeletal syndrome 1, 214150; Macular degeneration, age-related, susceptibility to 5, 613761 for gene: ERCC6 |
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| Structural eye disease v0.2 | ERCC6 |
Ellen McDonagh gene: ERCC6 was added gene: ERCC6 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, 133540Cerebrooculofacioskeletal syndrome 1, 214150De Sanctis-Cacchione syndrome, 278800{Macular degeneration, age-related, susceptibility to 5}, 613761UV-sensitive syndrome 1, 600630{Lung cancer, susceptibility to}, 211980; Cerebrooculofacioskeletal Syndrome |
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