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  3. RB1
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Sarcoma 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: Imported from Sarcoma cancer susceptibility 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 Sarcoma cancer susceptibility panel version Imported from Familial rhabdomyosarcoma panel version 0.20

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
  • Expert Review Amber
Phenotypes
  • Retinoblastoma, OMIM:180200
  • Osteosarcoma, somatic, OMIM:259500
OMIM
614041
Clinvar variants
Variants in RB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RB1 were changed from Retinoblastoma, 180200 to Retinoblastoma, OMIM:180200; Osteosarcoma, somatic, OMIM:259500

1 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to RB1.

23 Jul 2019, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: RB1 was added gene: RB1 was added to Sarcoma susceptibility. Sources: Expert Review Amber Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RB1 were set to 28338660 Phenotypes for gene: RB1 were set to Retinoblastoma, 180200