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| Genomic newborn screening: ICoNS v0.29 | RPS19 |
Jorune Balciuniene changed review comment from: Well established gene-disease association. Almost complete penetrance for loss of function variants, incomplete penetrance for missense variants. Variable expressivity Sources: Expert Review; to: Well established gene-disease association. Almost complete penetrance for loss of function variants, incomplete penetrance for missense variants. Variable expressivity The standard of care is corticosteroid treatment, recommended in children at age 12 months or older, and red blood cell transfusions. The only curative therapy is bone marrow transplantation Sources: Expert Review |
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| Genomic newborn screening: ICoNS v0.29 | RPS19 |
Jorune Balciuniene gene: RPS19 was added gene: RPS19 was added to Genomic newborn screening: ICoNS. Sources: Expert Review Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPS19 were set to 20301769; 30503522 Phenotypes for gene: RPS19 were set to Diamond-Blackfan Anemia Review for gene: RPS19 was set to GREEN Added comment: Well established gene-disease association. Almost complete penetrance for loss of function variants, incomplete penetrance for missense variants. Variable expressivity Sources: Expert Review |
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