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| Structural eye disease v0.76 | ERCC5 | Nicola Ragge reviewed gene: ERCC5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Xeroderma Pigmentosum, group G (includes microphthalmia and/or cataract), Cerebrooculofacioskeletal syndrome 3, 278780, 616570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | ERCC5 | Ivone Leong reviewed gene: ERCC5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Xeroderma Pigmentosum, group G (includes microphthalmia and/or cataract), 278780, Cerebrooculofacioskeletal syndrome 3, 616570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | ERCC5 |
Ivone Leong Source NHS GMS was added to ERCC5. Mode of inheritance for gene ERCC5 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Xeroderma Pigmentosum, group G (includes microphthalmia and/or cataract), 278780; Cerebrooculofacioskeletal syndrome 3, 616570 for gene: ERCC5 |
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| Structural eye disease v0.2 | ERCC5 |
Ellen McDonagh gene: ERCC5 was added gene: ERCC5 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ERCC5 was set to |
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