Childhood solid tumours
Gene: RB1EnsemblGeneIds (GRCh38): ENSG00000139687
EnsemblGeneIds (GRCh37): ENSG00000139687
OMIM: 614041, Gene2Phenotype
RB1 is in 11 panels
4 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Lara Hawkes (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Retinoblastoma
Ellen Thomas (Genomics England Curator)
Comment on list classification: RB1 mutations cause familial retinoblastoma and other malignancies. Present on the prior genetic testing list.Created: 14 Feb 2016, 6:57 p.m.
Ellen McDonagh (Genomics England Curator)
Relevant phenotypes sourced from the eligibility statement and OMIM. Mode of inheritance for retinoblastoma on OMIM = AD, somatic mutations and so for this gene panel, "Monoallelic" was added.Created: 8 Jan 2016, 2:33 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert List
- Expert Review Green
- Eligibility statement prior genetic testing
- Phenotypes
-
- Retinoblastoma, trilateral
- Retinoblastoma
- OMIM
- 614041
- Clinvar variants
- Variants in RB1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Sarcoma susceptibility
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Sarcoma cancer susceptibility
- Retinal disorders
- COVID-19 research
- Sarcoma of possible germline origin
- Retinoblastoma
- Familial rhabdomyosarcoma
- Childhood solid tumours cancer susceptibility
- Adult solid tumours for rare disease
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to RB1. Mode of inheritance for gene RB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Retinoblastoma for gene: RB1 Publications for gene RB1 were changed from to 23788249
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to RB1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for RB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene RB1 were set to Retinoblastoma; Retinoblastoma, trilateral
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene RB1 were set to Retinoblastoma; Retinoblastoma, trilateral
Added New Source
Ellen McDonagh (Genomics England Curator)RB1 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)RB1 was created by ellenmcdonagh