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  3. RB1
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Sarcoma cancer susceptibility

Gene: RB1

Amber List (moderate evidence)
RB1 (RB transcriptional corepressor 1)
EnsemblGeneIds (GRCh38): ENSG00000139687
EnsemblGeneIds (GRCh37): ENSG00000139687
OMIM: 614041, Gene2Phenotype
RB1 is in 10 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

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

Created: 13 Mar 2019, 2:56 p.m.

Panel version: 1.2

Helen Brittain (Genomics England Curator)

Green List (high evidence)

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

Created: 21 Dec 2017, 10:34 a.m.

Panel version: Imported from Familial rhabdomyosarcoma panel version 0.20

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Retinoblastoma, 180200
OMIM
614041
Clinvar variants
Variants in RB1
Penetrance
None
Panels with this gene

History Filter Activity

13 Mar 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: RB1 was added gene: RB1 was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RB1 were set to Retinoblastoma, 180200