| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.3743 | NKX2-1 | Zornitza Stark Marked gene: NKX2-1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3743 | NKX2-1 | Zornitza Stark Gene: nkx2-1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3743 | NKX2-1 | Zornitza Stark Classified gene: NKX2-1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3743 | NKX2-1 | Zornitza Stark Gene: nkx2-1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3742 | NKX2-1 | Zornitza Stark edited their review of gene: NKX2-1: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3742 | NKX2-1 | Zornitza Stark reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3709 | NKX2-1 |
Krithika Murali gene: NKX2-1 was added gene: NKX2-1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NKX2-1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NKX2-1 were set to 23911641; 11854319; 24714694 Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress - MIM#610978 Review for gene: NKX2-1 was set to GREEN Added comment: Heterozygous variants associated with congenital hypothyroidism, choreathetosis with or without pulmonary dysfunction. Allelic disorder to benign hereditary chorea (118700), which is less severe. Hypoplasia of the thyroid reported in some individuals. OMIM also reports septal heart defects noted in some patients. Sources: Literature |
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| Fetal anomalies v0.2108 | Zornitza Stark removed gene:NKX2-1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | NKX2-1 |
Zornitza Stark gene: NKX2-1 was added gene: NKX2-1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NKX2-1 were set to BENIGN HEREDITARY CHOREA; CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS |
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