Activity
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4 actions
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| Structural eye disease v0.76 | ERCC8 | Nicola Ragge reviewed gene: ERCC8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cockayne syndrome, type A, 216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | ERCC8 | Ivone Leong reviewed gene: ERCC8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cockayne syndrome, type A, 216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | ERCC8 |
Ivone Leong Source NHS GMS was added to ERCC8. Mode of inheritance for gene ERCC8 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cockayne syndrome, type A, 216400 for gene: ERCC8 |
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| Structural eye disease v0.2 | ERCC8 |
Ellen McDonagh gene: ERCC8 was added gene: ERCC8 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ERCC8 was set to |
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