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| BabyScreen+ newborn screening v0.1470 | ORAI1 | Zornitza Stark Marked gene: ORAI1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1470 | ORAI1 | Zornitza Stark Gene: orai1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1470 | ORAI1 | Zornitza Stark Classified gene: ORAI1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1470 | ORAI1 | Zornitza Stark Gene: orai1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1469 | ORAI1 |
Zornitza Stark Tag treatable tag was added to gene: ORAI1. Tag immunological tag was added to gene: ORAI1. |
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| BabyScreen+ newborn screening v0.1469 | ORAI1 |
Zornitza Stark gene: ORAI1 was added gene: ORAI1 was added to gNBS. Sources: Expert Review Mode of inheritance for gene: ORAI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ORAI1 were set to Immunodeficiency 9, MIM# 612782 Review for gene: ORAI1 was set to GREEN Added comment: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence): - Dominant ORAI1 missense variants via a GOF mechanism cause a slowly progressive myopathy (tubular aggregate myopathy/TAM) - Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy) Included here for AR disease. Onset is in newborn period. Life-threatening. Treatment: BMT. Non-genetic confirmatory testing: T cell proliferation assay Sources: Expert Review |
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