This Panel is marked as Internal
Tumour predisposition - adult onset
Gene: RB1
RB1 (RB transcriptional corepressor 1)
EnsemblGeneIds (GRCh38): ENSG00000139687
EnsemblGeneIds (GRCh37): ENSG00000139687
OMIM: 614041, Gene2Phenotype
RB1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000139687
EnsemblGeneIds (GRCh37): ENSG00000139687
OMIM: 614041, Gene2Phenotype
RB1 is in 11 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Adult solid tumours for rare disease (Version 1.21)
- Phenotypes
-
- Retinoblastoma
- OMIM
- 614041
- Clinvar variants
- Variants in RB1
- Penetrance
- None
- Panels with this gene
-
- Retinal disorders
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Sarcoma cancer susceptibility
- COVID-19 research
- Childhood solid tumours
- Sarcoma of possible germline origin
- Retinoblastoma
- Familial rhabdomyosarcoma
- Childhood solid tumours cancer susceptibility
- Adult solid tumours for rare disease
History Filter Activity
31 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Rebecca Foulger (Genomics England curator)Panel checked against two component panels (Adult solid tumours for rare disease v1.21 and Familial Tumours Syndromes of the central & peripheral Nervous system v1.8) and promoted to Version 1.0.
17 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: RB1 was added gene: RB1 was added to Tumour predisposition - adult onset. Sources: Adult solid tumours for rare disease (Version 1.21),Expert Review Green Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RB1 were set to Retinoblastoma