Familial rhabdomyosarcoma

Gene: CREBBP

Red List (low evidence)

CREBBP (CREB binding protein)
EnsemblGeneIds (GRCh38): ENSG00000005339
EnsemblGeneIds (GRCh37): ENSG00000005339
OMIM: 600140, Gene2Phenotype
CREBBP is in 19 panels

1 review

Helen Brittain (Genomics England Curator)

Red List (low evidence)

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

History Filter Activity

21 Dec 2017, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

21st December 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation by Helen Brittain.

21 Dec 2017, Gel status: 1

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

21 Dec 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CREBBP were set to Rubinstein-Taybi syndrome 1, 180849

21 Dec 2017, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for CREBBP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

21 Dec 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

CREBBP was added to Familial rhabdomyosarcoma panel. Sources: Literature

21 Dec 2017, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

CREBBP was created by Louise Daugherty