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| Structural eye disease v0.76 | ERCC2 | Nicola Ragge reviewed gene: ERCC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 601675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | ERCC2 | Ivone Leong reviewed gene: ERCC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 601675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.27 | ERCC2 | Ivone Leong Phenotypes for gene: ERCC2 were changed from TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 601675; Xeroderma pigmentosum, group D, 278730Trichothiodystrophy, 601675Cerebrooculofacioskeletal syndrome 2, 610756 to TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 601675; Xeroderma pigmentosum, group D, 278730; Trichothiodystrophy, 601675; Cerebrooculofacioskeletal syndrome 2, 610756 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | ERCC2 |
Ivone Leong Source NHS GMS was added to ERCC2. Mode of inheritance for gene ERCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 601675 for gene: ERCC2 |
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| Structural eye disease v0.2 | ERCC2 |
Ellen McDonagh gene: ERCC2 was added gene: ERCC2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ERCC2 was set to Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum, group D, 278730Trichothiodystrophy, 601675Cerebrooculofacioskeletal syndrome 2, 610756 |
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