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| BabyScreen+ newborn screening v1.17 | CORO1A | Zornitza Stark Tag technically challenging tag was added to gene: CORO1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.1 | CORO1A |
Zornitza Stark Tag treatable tag was added to gene: CORO1A. Tag immunological tag was added to gene: CORO1A. |
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| BabyScreen+ newborn screening v0.1930 | CORO1A | Zornitza Stark Marked gene: CORO1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1930 | CORO1A | Zornitza Stark Gene: coro1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1930 | CORO1A | Zornitza Stark Classified gene: CORO1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1930 | CORO1A | Zornitza Stark Gene: coro1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1929 | CORO1A |
Zornitza Stark gene: CORO1A was added gene: CORO1A was added to gNBS. Sources: Expert list Mode of inheritance for gene: CORO1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CORO1A were set to Immunodeficiency 8 MIM# 615401 Review for gene: CORO1A was set to GREEN Added comment: 3 unrelated families and 1 unrelated individual reported with bi-allelic (deletion, missense, insertion) variants, resulting in premature stop codons and truncated protein/ alter a highly conserved residue in binding domain; one mouse model All patients displayed T−B+NK+ SCID or CID presenting in early-onset recurrent infections and additional features that included EBV-associated lymphoproliferative disease and low immunoglobulin levels. Congenital onset. Treatment: bone marrow transplant Non-genetic confirmatory testing: T and B Lymphocyte and Natural Killer Cell Profile Sources: Expert list |
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