IBMDx study
Gene: RPA1
4 individuals with gain of function variants with bone marrow failure, myelodysplastic syndrome, T- and B-cell lymphopaenia, pulmonary fibrosis, or skin manifestations reported.
Sources: LiteratureCreated: 3 Dec 2021, 9:05 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Gene: rpa1 has been classified as Green List (High Evidence).
Phenotypes for gene: RPA1 were changed from New TBD gene ASH 2020 St Judes to 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
Publications for gene: RPA1 were set to
Mode of pathogenicity for gene: RPA1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for gene: RPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: RPA1 was added gene: RPA1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: RPA1 was set to Unknown Phenotypes for gene: RPA1 were set to New TBD gene ASH 2020 St Judes