Sarcoma susceptibility
Gene: CREBBP
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Rubinstein-Taybi syndrome 1, 180849
Causation is clear re Rubinstein-Taybi syndrome, however this would be expected to present in a syndromic manner prior to any tumour development. It is estimated that 5% of people with RTS develop a malignancy, a minority of which will be rhabdomyosarcomas. Therefore on balance, unlikely to be of benefit on a primary rhabdomyosarcoma panel.Created: 21 Dec 2017, 10:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Rubinstein-Taybi syndrome 1, 180849
Phenotypes for gene: CREBBP were changed from Rubinstein-Taybi syndrome 1, 180849 to Rubinstein-Taybi syndrome 1, OMIM:180849; Rhabdomyosarcoma (disease), MONDO:0005212
Source NHS GMS was added to CREBBP.
gene: CREBBP was added gene: CREBBP was added to Sarcoma susceptibility. Sources: Expert Review Red Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome 1, 180849