| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genomic newborn screening: ICoNS v0.38 | RPS26 | Lilian Downie Marked gene: RPS26 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.38 | RPS26 | Lilian Downie Gene: rps26 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.38 | RPS26 | Lilian Downie Classified gene: RPS26 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.38 | RPS26 | Lilian Downie Gene: rps26 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.35 | RPS26 |
Jorune Balciuniene gene: RPS26 was added gene: RPS26 was added to Genomic newborn screening: ICoNS. Sources: Literature Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPS26 were set to 20301769, 30503522 Phenotypes for gene: RPS26 were set to Diamond-Blackfan anemia 10 Penetrance for gene: RPS26 were set to unknown Review for gene: RPS26 was set to GREEN Added comment: Accounts for 6-9% of all DBA. Penetrance 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: Literature |
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