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Retinoblastoma
Gene: RB1
RB1 (RB transcriptional corepressor 1)
EnsemblGeneIds (GRCh38): ENSG00000139687
EnsemblGeneIds (GRCh37): ENSG00000139687
OMIM: 614041, Gene2Phenotype
RB1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000139687
EnsemblGeneIds (GRCh37): ENSG00000139687
OMIM: 614041, Gene2Phenotype
RB1 is in 10 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #180200) and the OMIM record was last accessed on 29 December 2025.Created: 29 Dec 2025, 12:07 p.m. | Last Modified: 29 Dec 2025, 12:07 p.m.
Panel Version: 1.2
RB1 has been added to the panel for R219 Retinoblastoma with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 3:33 p.m. | Last Modified: 30 Jun 2023, 3:33 p.m.
Panel Version: 0.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Retinoblastoma, OMIM:180200
- Retinoblastoma, trilateral, OMIM:180200
- hereditary retinoblastoma, MONDO:0018160
- OMIM
- 614041
- Clinvar variants
- Variants in RB1
- Penetrance
- None
- Panels with this gene
History Filter Activity
29 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: RB1 were changed from to Retinoblastoma, OMIM:180200; Retinoblastoma, trilateral, OMIM:180200; hereditary retinoblastoma, MONDO:0018160
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: RB1 was added gene: RB1 was added to Retinoblastoma. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown