hereditary retinoblastoma
Findings
No curated finding names hereditary retinoblastoma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant disorder caused by pathogenic variants in the RB1 gene, characterized by an increased risk of retinoblastoma in early childhood. Individuals with hereditary retinoblastoma also have an increased risk of developing secondary cancers, such as osteosarcoma, melanoma and carcinomas in childhood and adulthood.
Definition from the Mondo Disease Ontology (MONDO:0018160), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RB1HGNC:9884
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: hereditary retinoblastoma
- Also called
- familial retinoblastomaRB1RB1-related retinoblastoma predispositionretinoblastoma, autosomal dominant, somatic mutationretinoblastoma, trilateral, autosomal dominant, somatic mutation