This Panel is marked as Internal
Genomic imprinting
Gene: RB1
RB1 (RB transcriptional corepressor 1)
EnsemblGeneIds (GRCh38): ENSG00000139687
EnsemblGeneIds (GRCh37): ENSG00000139687
OMIM: 614041, Gene2Phenotype
RB1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000139687
EnsemblGeneIds (GRCh37): ENSG00000139687
OMIM: 614041, Gene2Phenotype
RB1 is in 11 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Literature
- OMIM
- 614041
- Clinvar variants
- Variants in RB1
- Penetrance
- None
- Publications
-
- 30794780
- http://igc.otago.ac.nz/home.html
- Panels with this gene
-
- Retinal disorders
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Sarcoma cancer susceptibility
- COVID-19 research
- Childhood solid tumours
- Sarcoma of possible germline origin
- Retinoblastoma
- Familial rhabdomyosarcoma
- Childhood solid tumours cancer susceptibility
- Adult solid tumours for rare disease
History Filter Activity
22 Dec 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications
Sarah Leigh (Genomics England Curator)gene: RB1 was added gene: RB1 was added to Imprinted Genes. Sources: Literature Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: RB1 were set to 30794780; http://igc.otago.ac.nz/home.html