| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Photosensitivity Syndromes v0.47 | RECQL4 | Zornitza Stark Publications for gene: RECQL4 were set to 12838562; 10319867; 20503338; 18716613; 18616953 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.8 | RECQL4 | Zornitza Stark Marked gene: RECQL4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.8 | RECQL4 | Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.8 | RECQL4 | Zornitza Stark Classified gene: RECQL4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.8 | RECQL4 | Zornitza Stark Gene: recql4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.2 | RECQL4 |
Crystle Lee gene: RECQL4 was added gene: RECQL4 was added to Photosensitivity Syndromes. Sources: Expert Review Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RECQL4 were set to 12838562; 10319867; 20503338; 18716613; 18616953 Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome, type 2, (MIM#268400) Review for gene: RECQL4 was set to GREEN Added comment: Sun sensitivity is a feature of RTS (OMIM). Congenital poikiloderma and photosensitivity is a feature of this phenotype. Biallelic variants reported in >5 RTS patients. Sources: Expert Review |
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