ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000013.10) (NC_000013.11)
Evidence for haploinsufficiency phenotype
PubMed ID Description
2601691 Dunn et al. (1989) analyzed 19 patients with RB. RB1 mutations were identified in 13 tumors, including the following germline mutations: 55 bp duplication within exon 10 (truncated protein) and a 10 bp deletion in exon 18 (truncated protein).
2594029 Yandell et al. (1989) analyzed tumors from 7 patients with RB. RB1 mutations were identified in all tumors, including a de novo germline mutation (ARG445TER).
8651278 Lohmann et al. (1996) reported on 119 patients with RB and found RB1 mutations in 99 patients (83%). The mutation spectrum included 42% base substitutions, 26% small length alterations, and 15% large deletions.

Haploinsufficiency phenotype comments:

Hereditary retinoblastoma is caused by a heterozygous germline mutation on one allele and a somatic mutation on the other allele of the RB1 gene.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity