Activity
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| Ataxia - paediatric v0.194 | NKX2-1 | Zornitza Stark Marked gene: NKX2-1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.194 | NKX2-1 | Zornitza Stark Gene: nkx2-1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.194 | NKX2-1 | Zornitza Stark Publications for gene: NKX2-1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.175 | NKX2-1 | Bryony Thompson reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10931427, 27066577, 26839702, 26103969; Phenotypes: Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978, Chorea, hereditary benign MIM#118700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.0 | NKX2-1 |
Bryony Thompson gene: NKX2-1 was added gene: NKX2-1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NKX2-1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978; Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978; Chorea, hereditary benign 118700; Hereditary bening chorea, 118700 |
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