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| Sarcoma susceptibility v1.16 | RECQL4 | Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Baller-Gerold syndrome, OMIM:218600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v1.16 | RECQL4 | Arina Puzriakova Phenotypes for gene: RECQL4 were changed from Rothmund-Thomson, Beller-Gerold and RAPADALINO syndromes; Osteosarcoma to RAPADILINO syndrome, OMIM:266280; Rothmund-Thomson syndrome, type 2, OMIM:268400; Osteosarcoma (disease), MONDO:0009807 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.2 | RECQL4 | Rebecca Foulger reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 28338660; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.0 | RECQL4 |
Rebecca Foulger gene: RECQL4 was added gene: RECQL4 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RECQL4 were set to 12734318; 17264332; 12612652; 28338660 Phenotypes for gene: RECQL4 were set to Rothmund-Thomson, Beller-Gerold and RAPADALINO syndromes; Osteosarcoma |
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