Activity
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| Sarcoma of possible germline origin v0.4 | RECQL4 | Achchuthan Shanmugasundram commented on gene: RECQL4: RECQL4 has been added to the panel for the clinical indication 'R457 Sarcoma of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma of possible germline origin v0.2 | RECQL4 | Achchuthan Shanmugasundram reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Rothmund-Thomson syndrome, type 2, OMIM:268400, Rothmund-Thomson syndrome type 2, MONDO:0016369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma of possible germline origin v0.1 | RECQL4 |
Achchuthan Shanmugasundram gene: RECQL4 was added gene: RECQL4 was added to Sarcoma of possible germline origin. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RECQL4 were set to Rothmund-Thomson syndrome, type 2, OMIM:268400; Rothmund-Thomson syndrome type 2, MONDO:0016369 |
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