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| Genomic newborn screening: ICoNS v0.35 | RPL11 |
Jorune Balciuniene gene: RPL11 was added gene: RPL11 was added to Genomic newborn screening: ICoNS. Sources: Literature Mode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL11 were set to 19773262, 20301769 Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia 7 Penetrance for gene: RPL11 were set to Incomplete Review for gene: RPL11 was set to GREEN gene: RPL11 was marked as current diagnostic Added comment: Accounts for 5%-7% of all DBA. Pathogenic variants in RPL11 are predominantly associated with thumb abnormalities. Penetrance seems to be high but incomplete (a couple of families with asymptomatic parents reported) with variable expressivity More than 90% of the 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: Literature |
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