RPA1

replication protein A1
OMIM: 179835, Gene2Phenotype

2 panels

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


Version 3.34
Latest signed off version: v3.0 (22 Mar 2023)

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 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.7
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