RPA1

replication protein A1
OMIM: 179835, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green RPA1 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767
  • Bone marrow failure
  • T- and B-cell lymphopaenia
  • pulmonary fibrosis
  • skin manifestations
  • short telomeres

Green RPA1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767
  • Bone marrow failure
  • T- and B-cell lymphopaenia
  • pulmonary fibrosis
  • skin manifestations
  • short telomeres

Green RPA1 in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 0.57

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767
  • Bone marrow failure
  • T- and B-cell lymphopaenia
  • pulmonary fibrosis
  • skin manifestations
  • short telomeres

Green RPA1 in Homologous_recombination_deficiency_WTS_UMCCR


Level 2: Cancer
Version 0.43

review Unknown
Sources
  • Literature
  • Expert Review Green
Tags
  • umccr

Green RPA1 in IBMDx study


Version 0.25

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • IBMDx Study
  • Literature
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767
  • Bone marrow failure
  • T- and B-cell lymphopaenia
  • pulmonary fibrosis
  • skin manifestations
  • short telomeres