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| Genomic newborn screening: ICoNS v0.35 | RPS17 |
Jorune Balciuniene gene: RPS17 was added gene: RPS17 was added to Genomic newborn screening: ICoNS. Sources: ClinGen,Literature Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPS17 were set to 20301769 Phenotypes for gene: RPS17 were set to Diamond-Blackfan anemia 4 Penetrance for gene: RPS17 were set to unknown Review for gene: RPS17 was set to GREEN gene: RPS17 was marked as current diagnostic Added comment: Accounts for 1-3% of all DBA. Penetrance seems high, variable expressivity. More than 90% of DBA patients present during the first year of life. The diagnosis is generally made at 3 months, of age with a range from birth to adulthood. Treatment: Corticosteroids and red blood cell transfusions are the mainstays of therapy. Curative treatment - hematopoietic stem cell transplantation Sources: ClinGen, Literature |
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