| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Structural eye disease v0.76 | ERCC3 | Nicola Ragge reviewed gene: ERCC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, 616390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | ERCC3 | Ivone Leong reviewed gene: ERCC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, 616390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | ERCC3 |
Ivone Leong Source NHS GMS was added to ERCC3. Mode of inheritance for gene ERCC3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, 616390 for gene: ERCC3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.2 | ERCC3 |
Ellen McDonagh gene: ERCC3 was added gene: ERCC3 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ERCC3 was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||