Familial rhabdomyosarcomaGene: CREBBP
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
Rubinstein-Taybi syndrome 1, 180849
21st December 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation by Helen Brittain.
This gene has been classified as Red List (Low Evidence).
Phenotypes for CREBBP were set to Rubinstein-Taybi syndrome 1, 180849
Mode of inheritance for CREBBP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CREBBP was added to Familial rhabdomyosarcoma panel. Sources: Literature
CREBBP was created by Louise Daugherty