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IBMDx study

Gene: RPA1

Green List (high evidence)
RPA1 (replication protein A1)
EnsemblGeneIds (GRCh38): ENSG00000132383
EnsemblGeneIds (GRCh37): ENSG00000132383
OMIM: 179835, Gene2Phenotype
RPA1 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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: Literature
Created: 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

Created: 3 Dec 2021, 9:05 a.m.

Panel version: 0.16

Details

Mode of Inheritance
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
OMIM
179835
Clinvar variants
Variants in RPA1
Penetrance
None
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
Panels with this gene

History Filter Activity

5 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rpa1 has been classified as Green List (High Evidence).

5 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RPA1 were set to

5 Mar 2022, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

10 Dec 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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