Familial rhabdomyosarcoma
Gene: RB1EnsemblGeneIds (GRCh38): ENSG00000139687
EnsemblGeneIds (GRCh37): ENSG00000139687
OMIM: 614041, Gene2Phenotype
RB1 is in 11 panels
1 review
Helen Brittain (Genomics England Curator)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Retinoblastoma, 180200
- OMIM
- 614041
- Clinvar variants
- Variants in RB1
- Penetrance
- None
- Panels with this gene
-
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Sarcoma cancer susceptibility
- COVID-19 research
- Sarcoma of possible germline origin
- Retinal disorders
- Retinoblastoma
- Familial rhabdomyosarcoma
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Adult solid tumours for rare disease
History Filter Activity
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.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for RB1 were set to Retinoblastoma, 180200
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for RB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)RB1 was added to Familial rhabdomyosarcoma panel. Sources: Literature
Created
Louise Daugherty (Genomics England Curator)RB1 was created by Louise Daugherty