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  2. Sarcoma of possible germline origin
  3. RB1
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Sarcoma of possible germline origin

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

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

RB1 has been added to the panel for the clinical indication 'R457 Sarcoma of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 26 Jan 2026, 6:28 p.m. | Last Modified: 26 Jan 2026, 6:28 p.m.
Panel Version: 0.4
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #180200) and the OMIM record was last accessed on 30 December 2025.
Created: 30 Dec 2025, 2:24 p.m. | Last Modified: 30 Dec 2025, 2:24 p.m.
Panel Version: 0.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Retinoblastoma, OMIM:180200; Retinoblastoma, trilateral, OMIM:180200; hereditary retinoblastoma, MONDO:0018160

Created: 30 Dec 2025, 2:24 p.m.
Last Modified: 30 Dec 2025, 2:24 p.m.
Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
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

30 Dec 2025, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: RB1 was added gene: RB1 was added to Sarcoma of possible germline origin. Sources: NHS GMS,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, OMIM:180200; Retinoblastoma, trilateral, OMIM:180200; hereditary retinoblastoma, MONDO:0018160