RPA1

replication protein A1
OMIM: 179835, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green RPA1 in Bone Marrow Failure Level 2: Haematological disorders Version 1.129 Component of the following Super Panels: Immunological disorders_SuperPanel	1 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 1.3512	1 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 0.92	1 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 IBMDx study Version 0.38	1 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
Green RPA1 in Hereditary Pigmentary Disorders Level 2: Dermatological disorders Version 1.3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Phenotypes pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 MONDO:0030690