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| Genomic newborn screening: ICoNS v0.37 | RPS19 | Lilian Downie Marked gene: RPS19 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.37 | RPS19 | Lilian Downie Gene: rps19 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.37 | RPS19 | Lilian Downie Classified gene: RPS19 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.37 | RPS19 | Lilian Downie Added comment: Comment on list classification: Some challenges identifying variants; deep intronic, large deletions reported | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.37 | RPS19 | Lilian Downie Gene: rps19 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.36 | RPS19 |
Jorune Balciuniene changed review comment from: Accounts for 25-30% of all DBA. Penetrance seems to be high but incomplete with variable expressivity. Missense variants are less penetrant 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; to: Accounts for 25-30% of all DBA. Penetrance seems to be high but incomplete with variable expressivity. Missense variants are less penetrant. Genetic testing complexities: Deep intronic pathogenic variant c.172+350C>T 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 |
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| Genomic newborn screening: ICoNS v0.35 | RPS19 |
Jorune Balciuniene edited their review of gene: RPS19: Added comment: Accounts for 25-30% of all DBA. Penetrance seems to be high but incomplete with variable expressivity. Missense variants are less penetrant 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; Set current diagnostic: yes |
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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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