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| BabyScreen+ newborn screening v0.2023 | LRBA | Zornitza Stark Marked gene: LRBA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2023 | LRBA | Zornitza Stark Gene: lrba has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2023 | LRBA | Zornitza Stark Classified gene: LRBA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2023 | LRBA | Zornitza Stark Gene: lrba has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2022 | LRBA |
Zornitza Stark gene: LRBA was added gene: LRBA was added to Baby Screen+ newborn screening. Sources: Expert list treatable, immunological tags were added to gene: LRBA. Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRBA were set to 22608502; 22721650; 25468195; 26206937; 33155142; 31887391 Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700 Review for gene: LRBA was set to GREEN Added comment: Well established gene-disease association. Generally childhood onset with recurrent infections and autoimmune phenomena. Treatment: abatacept, BMT. Non-genetic confirmatory testing: immunoglobulin levels. Sources: Expert list |
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