Sarcoma susceptibility
Gene: PAX7
This gene was added to this panel after feedback from Laura King (Great Ormond Street Hospital, London) to include genes from the Familial rhabdomyosarcoma gene panel (code 290 version 1.4) and the Inherited predisposition to GIST gene panel (code 523, version 0.20). The highest rating for this gene from these two panels was Red, as captured here in this review.Created: 13 Mar 2019, 2:56 p.m.
Mode of inheritance
Other - please specifiy in evaluation comments
Phenotypes
Rhabdomyosarcoma 2, alveolar, 268220
Publications
Somatic events including gene fusions reported in pathogenesisCreated: 21 Dec 2017, 10:34 a.m.
Mode of inheritance
Other - please specify in evaluation comments
Phenotypes
Rhabdomyosarcoma, alveolar, 268220
Publications
Phenotypes for gene: PAX7 were changed from Rhabdomyosarcoma 2, alveolar, 268220 to Rhabdomyosarcoma 2, alveolar, OMIM:268220
Source NHS GMS was added to PAX7.
gene: PAX7 was added gene: PAX7 was added to Sarcoma susceptibility. Sources: Expert Review Red Mode of inheritance for gene: PAX7 was set to Other - please specifiy in evaluation comments Publications for gene: PAX7 were set to 25768946 Phenotypes for gene: PAX7 were set to Rhabdomyosarcoma 2, alveolar, 268220