| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Photosensitivity Syndromes v0.2 | UVSSA | Zornitza Stark Marked gene: UVSSA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.2 | UVSSA | Zornitza Stark Gene: uvssa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.2 | UVSSA | Zornitza Stark Classified gene: UVSSA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.2 | UVSSA | Zornitza Stark Gene: uvssa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.1 | UVSSA |
Crystle Lee gene: UVSSA was added gene: UVSSA was added to Photosensitivity Syndromes. Sources: Expert Review Mode of inheritance for gene: UVSSA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UVSSA were set to 31421932 Phenotypes for gene: UVSSA were set to UV-sensitive syndrome 3 (MIM#614640) Review for gene: UVSSA was set to GREEN Added comment: At least 4 different variants have previously been reported. The condition is characterised by photosensitivity, and hyperpigmentation, freckling, and dryness of sun exposed areas PMID: 31421932: Single nonsense variant reported in 2 Pakistani families with UV-sensitive syndrome. Also reviews previously published variants. Sources: Expert Review |
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