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| BabyScreen+ newborn screening v1.114 | NKX2-1 | Tommy Li Added phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978 for gene: NKX2-1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1710 | NKX2-1 |
Zornitza Stark Tag treatable tag was added to gene: NKX2-1. Tag endocrine tag was added to gene: NKX2-1. |
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| BabyScreen+ newborn screening v0.443 | NKX2-1 | Zornitza Stark Marked gene: NKX2-1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.443 | NKX2-1 | Zornitza Stark Gene: nkx2-1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.443 | NKX2-1 | Zornitza Stark Phenotypes for gene: NKX2-1 were changed from Choreoathetosis, hypothyroidism, and neonatal respiratory distress to Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.442 | NKX2-1 | Zornitza Stark reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.274 | NKX2-1 | David Amor reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, NKX2-1-Related Disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | NKX2-1 |
Zornitza Stark gene: NKX2-1 was added gene: NKX2-1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress |
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