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Severe Paediatric Disorders

Gene: NKX2-5

Green List (high evidence)

NKX2-5 (NK2 homeobox 5)
EnsemblGeneIds (GRCh38): ENSG00000183072
EnsemblGeneIds (GRCh37): ENSG00000183072
OMIM: 600584, Gene2Phenotype
NKX2-5 is in 17 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: NKX2-5; Recommended initial gene rating: Green List (high evidence); Phenotypes: Atrial septal defect 7, with or without AV conduction defects, 108900 (3) | Conotruncal heart malformations, variable, 217095 (3) | Hypoplastic left heart syndrome 2, 614435 (3) | Hypothyroidism, congenital nongoitrous, 5, 225250 (3) | Tetralogy of Fallot, 187500 (3) | Ventricular septal defect 3, 614432 (3); Mode of inheritance: Autosomal dominant | ND | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
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
OMIM
600584
Clinvar variants
Variants in NKX2-5
Penetrance
None
Publications
Panels with this gene