Adult solid tumours cancer susceptibility
Gene: RB1EnsemblGeneIds (GRCh38): ENSG00000139687
EnsemblGeneIds (GRCh37): ENSG00000139687
OMIM: 614041, Gene2Phenotype
RB1 is in 11 panels
2 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 12:34 p.m. | Last Modified: 2 Aug 2019, 12:34 p.m.
Panel Version: 1.5
Clare Turnbull (Queen Mary University London)
Tumor Suppressor.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Retinoblastoma
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Retinoblastoma
- OMIM
- 614041
- Clinvar variants
- Variants in RB1
- Penetrance
- Complete
- Panels with this gene
-
- Retinal disorders
- Familial rhabdomyosarcoma
- Childhood solid tumours cancer susceptibility
- Adult solid tumours for rare disease
- Sarcoma of possible germline origin
- Adult solid tumours cancer susceptibility
- Sarcoma susceptibility
- Sarcoma cancer susceptibility
- COVID-19 research
- Childhood solid tumours
- Retinoblastoma
History Filter Activity
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to RB1.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumor Suppressor.
Added New Source
Ellen McDonagh (Genomics England Curator)RB1 was added to Adult solid tumourspanel. Source: Expert Review Green
Added New Source
Ellen McDonagh (Genomics England Curator)RB1 was added to Adult solid tumourspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)RB1 was created by ellenmcdonagh