RB1

RB transcriptional corepressor 1
OMIM: 614041, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green RB1 in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.42

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Retinoblastoma
Red RB1 in COVID-19 research


Level 2: Viral research
Version 1.146

review Not set
Sources
  • OMIM
Green RB1 in Familial rhabdomyosarcoma

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.6

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Retinoblastoma, 180200
Green RB1 in Childhood solid tumours


Level 2: Cancer susceptibility
Version 5.9
Latest signed off version: v5.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Retinoblastoma, trilateral
  • Retinoblastoma
Amber RB1 in Sarcoma cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.26

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Retinoblastoma, 180200
Green RB1 in Childhood solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.30

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Retinoblastoma
Green RB1 in Adult solid tumours cancer susceptibility


Level 2: Cancer susceptibility
Version 2.35
Latest signed off version: v2.2 (18 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Retinoblastoma
Red RB1 in Retinal disorders


Level 2: Ophthalmology
Version 8.86
Latest signed off version: v8.0 (30 Apr 2025)

review Not set
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Retinoblastoma
Amber RB1 in Sarcoma susceptibility


Level 2: Cancer susceptibility
Version 1.82
Latest signed off version: v1.2 (18 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
  • Expert Review Amber
Phenotypes
  • Retinoblastoma, OMIM:180200
  • Osteosarcoma, somatic, OMIM:259500
Green RB1 in Retinoblastoma


Level 2: Inherited cancer
Version 1.3
Latest signed off version: v1.0 (14 Sep 2023)

review 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