Tumour predisposition - childhood onset

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

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green
Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27

Lara Hawkes (Genomics England)

Green List (high evidence)

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

History Filter Activity

2 Aug 2019, Gel status: 3

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

30 Jan 2019, Gel status: 3

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)

14 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for RB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

14 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Jan 2016, Gel status: 0

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

8 Jan 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene RB1 were set to Retinoblastoma; Retinoblastoma, trilateral

8 Jan 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene RB1 were set to Retinoblastoma; Retinoblastoma, trilateral

8 Jan 2016, Gel status: 0

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

8 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RB1 was created by ellenmcdonagh