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| Cytopenia - NOT Fanconi anaemia v2.3 | RPA1 | Achchuthan Shanmugasundram Tag Q2_22_rating was removed from gene: RPA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v2.3 | RPA1 | Achchuthan Shanmugasundram reviewed gene: RPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v2.2 | RPA1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RPA1. Source NHS GMS was added to RPA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Cytopenia - NOT Fanconi anaemia v1.61 | RPA1 | Arina Puzriakova Classified gene: RPA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.61 | RPA1 | Arina Puzriakova Added comment: Comment on list classification: Despite the heterogenous phenotypes observed, there are sufficient cases (3) with hematopoietic manifestations to warrant a green rating on this panel at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.61 | RPA1 | Arina Puzriakova Gene: rpa1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.60 | RPA1 | Arina Puzriakova Tag Q2_22_rating tag was added to gene: RPA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.60 | RPA1 | Arina Puzriakova Penetrance for gene RPA1 was set from to unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.59 | RPA1 | Arina Puzriakova Publications for gene: RPA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.58 | RPA1 | Arina Puzriakova reviewed gene: RPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34767620; Phenotypes: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, OMIM:619767; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.58 | RPA1 | Arina Puzriakova Phenotypes for gene: RPA1 were changed from bone marrow failure; T- and B-cell lymphopenia; pulmonary fibrosis; skin manifestations. to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, OMIM:619767 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.43 | RPA1 |
Dmitrijs Rots gene: RPA1 was added gene: RPA1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature Mode of inheritance for gene: RPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPA1 were set to bone marrow failure; T- and B-cell lymphopenia; pulmonary fibrosis; skin manifestations. Penetrance for gene: RPA1 were set to unknown Mode of pathogenicity for gene: RPA1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: RPA1 was set to GREEN Added comment: 4 cases with gain of function mutations with "including bone marrow failure, myelodysplastic syndrome, T- and B-cell lymphopenia, pulmonary fibrosis, or skin manifestations." described in https://doi.org/10.1182/blood.2021011980 Sources: Literature |
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