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 4.32
Latest signed off version: v4.0 (30 Apr 2025)

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 1.8
Latest signed off version: v1.3 (30 Nov 2022)

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