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Fetal anomalies v0.135 NKX2-1 Rebecca Foulger Source Expert Review Red was added to NKX2-1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.134 NKX2-1 Rebecca Foulger edited their review of gene: NKX2-1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Don't include: septal defect in some patients. Action taken: Demoted NKX2-1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.9 NKX2-1 Rebecca Foulger reviewed gene: NKX2-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 NKX2-1 Rebecca Foulger Added phenotypes CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS for gene: NKX2-1
Fetal anomalies v0.1 NKX2-1 Rebecca Foulger gene: NKX2-1 was added
gene: NKX2-1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
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