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| Genomic newborn screening: ICoNS v0.35 | RPL5 |
Jorune Balciuniene gene: RPL5 was added gene: RPL5 was added to Genomic newborn screening: ICoNS. Sources: ClinGen,Literature Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL5 were set to 19773262 Phenotypes for gene: RPL5 were set to Diamond-Blackfan anemia 6 Penetrance for gene: RPL5 were set to Incomplete Review for gene: RPL5 was set to GREEN gene: RPL5 was marked as current diagnostic Added comment: Accounts for 7-12% of all DBA. Penetrance seems to be high but incomplete with variable expressivity. Manifestation often include small gestational age, craniofacial, congenital heart, and thumb defects. 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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