This Panel is marked as Retired
Multiple Tumours
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
1 review
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:47 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Retinoblastoma
- Pinealoma
- Sarcoma
- Melanoma
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- OMIM
- 614041
- Clinvar variants
- Variants in RB1
- Penetrance
- Complete
- Panels with this gene
-
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Sarcoma cancer susceptibility
- COVID-19 research
- Retinal disorders
- Sarcoma of possible germline origin
- Retinoblastoma
- Familial rhabdomyosarcoma
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Adult solid tumours for rare disease
History Filter Activity
9 Mar 2016, Gel status: 4
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)RB1 was added to Multiple Tumourspanel. Source: Expert Review Green Model of inheritance for gene RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)RB1 was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)RB1 was created by ellenmcdonagh