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| BabyScreen+ newborn screening v1.114 | STK4 | Tommy Li Added phenotypes T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM#614868 for gene: STK4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2069 | STK4 | Zornitza Stark Marked gene: STK4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2069 | STK4 | Zornitza Stark Gene: stk4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2069 | STK4 | Zornitza Stark Classified gene: STK4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2069 | STK4 | Zornitza Stark Gene: stk4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2068 | STK4 |
Zornitza Stark Tag treatable tag was added to gene: STK4. Tag immunological tag was added to gene: STK4. |
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| BabyScreen+ newborn screening v0.2068 | STK4 | Zornitza Stark reviewed gene: STK4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM#614868; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2063 | STK4 |
Lilian Downie gene: STK4 was added gene: STK4 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STK4 were set to PMID: 22294732 Phenotypes for gene: STK4 were set to T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM#614868 Review for gene: STK4 was set to GREEN Added comment: primary T-cell immunodeficiency syndrome characterized by progressive loss of naive T cells, recurrent bacterial, viral, and fungal infections, warts, and abscesses, autoimmune manifestations, and cardiac malformations, including atrial septal defect Rx bone marrow transplant Sources: Expert list |
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