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| Severe Paediatric Disorders v0.12 | NKX2-5 | Louise Daugherty reviewed gene: NKX2-5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | NKX2-5 | Louise Daugherty Publications for gene NKX2-5 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | NKX2-5 | Louise Daugherty Mode of inheritance for gene NKX2-5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | NKX2-5 | Louise Daugherty Added phenotypes Tetralogy of Fallot, 187500; Conotruncal heart malformations, variable, 217095; Ventricular septal defect 3, 614432; Hypothyroidism, congenital nongoitrous, 5, 225250; Hypoplastic left heart syndrome 2, 614435; Atrial septal defect 7, with or without AV conduction defects, 108900 for gene: NKX2-5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | NKX2-5 | Louise Daugherty Added phenotypes Tetralogy of Fallot, 187500; Conotruncal heart malformations, variable, 217095; Ventricular septal defect 3, 614432; Hypothyroidism, congenital nongoitrous, 5, 225250; Hypoplastic left heart syndrome 2, 614435; Atrial septal defect 7, with or without AV conduction defects, 108900 for gene: NKX2-5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | NKX2-5 | Louise Daugherty Added phenotypes Tetralogy of Fallot, 187500; Conotruncal heart malformations, variable, 217095; Ventricular septal defect 3, 614432; Hypothyroidism, congenital nongoitrous, 5, 225250; Hypoplastic left heart syndrome 2, 614435; Atrial septal defect 7, with or without AV conduction defects, 108900 for gene: NKX2-5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | NKX2-5 | Louise Daugherty Added phenotypes Atrial septal defect 7, with or without AV conduction defects, 108900; Hypothyroidism, congenital nongoitrous, 5, 225250; Ventricular septal defect 3, 614432; Tetralogy of Fallot, 187500; Hypoplastic left heart syndrome 2, 614435; Conotruncal heart malformations, variable, 217095 for gene: NKX2-5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | NKX2-5 | Louise Daugherty Source Next Generation Children Project was added to NKX2-5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | NKX2-5 |
Louise Daugherty Source Expert Review Green was added to NKX2-5. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | NKX2-5 |
Louise Daugherty gene: NKX2-5 was added gene: NKX2-5 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: NKX2-5 was set to |
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