Familial rhabdomyosarcoma

Gene: RB1

Green List (high evidence)

RB1 (RB transcriptional corepressor 1)
EnsemblGeneIds (GRCh38): ENSG00000139687
EnsemblGeneIds (GRCh37): ENSG00000139687
OMIM: 614041, Gene2Phenotype
RB1 is in 11 panels

1 review

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

History Filter Activity

21 Dec 2017, Gel status: 3

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: 3

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Dec 2017, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for RB1 were set to Retinoblastoma, 180200

21 Dec 2017, Gel status: 3

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

21 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Dec 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

RB1 was added to Familial rhabdomyosarcoma panel. Sources: Literature

21 Dec 2017, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

RB1 was created by Louise Daugherty