RPA1

replication protein A1
OMIM: 179835, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green RPA1 in Cytopenia - NOT Fanconi anaemia


Level 2: Haematology
Version 5.2
Latest signed off version: v5.0 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, OMIM:619767
Amber RPA1 in Pulmonary fibrosis familial


Level 2: Respiratory
Version 1.10
Latest signed off version: v1.9 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, OMIM:619767