Childhood solid tumours
Gene: RB1
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
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Retinoblastoma
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.
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.
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
Source Expert List was added to RB1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for RB1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene RB1 were set to Retinoblastoma; Retinoblastoma, trilateral
Phenotypes for gene RB1 were set to Retinoblastoma; Retinoblastoma, trilateral
RB1 was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Eligibility statement prior genetic testing
RB1 was created by ellenmcdonagh