Sarcoma susceptibility
Gene: RB1
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 Green, as captured here in this review.Created: 13 Mar 2019, 2:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Retinoblastoma, 180200
Causation is clear re retinoblastoma, however, there is likely to be a primary history of this tumour. Later secondary effects include osteogenic sarcoma, but there is less evidence to support rhabdomyosarcoma. Reviewed with Clare Turnbull and Gareth Evans for consensus.Created: 21 Dec 2017, 10:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Retinoblastoma, 180200
Phenotypes for gene: RB1 were changed from Retinoblastoma, 180200 to Retinoblastoma, OMIM:180200; Osteosarcoma, somatic, OMIM:259500
Source NHS GMS was added to RB1.
gene: RB1 was added gene: RB1 was added to Sarcoma susceptibility. Sources: Expert Review Amber Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RB1 were set to 28338660 Phenotypes for gene: RB1 were set to Retinoblastoma, 180200