Paediatric disorders - additional genes

Gene: NKX2-6

Red List (low evidence)

NKX2-6 (NK2 homeobox 6)
EnsemblGeneIds (GRCh38): ENSG00000180053
EnsemblGeneIds (GRCh37): ENSG00000180053
OMIM: 611770, Gene2Phenotype
NKX2-6 is in 3 panels

1 review

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

This gene was submitted by Rebecca Whittington on behalf of the South West GLH, for inclusion on the Paediatric disorders panel (https://panelapp.genomicsengland.co.uk/panels/486/). This gene is currently Red on all panels in PanelApp.
Created: 26 Nov 2019, 2:38 p.m. | Last Modified: 26 Nov 2019, 2:38 p.m.
Panel Version: 0.35

Mode of inheritance
Unknown

Phenotypes
Conotruncal heart malformations; Persistent truncus arteriosus

Details

Mode of Inheritance
Unknown
Sources
  • South West GLH
Phenotypes
  • Conotruncal heart malformations
  • Persistent truncus arteriosus
OMIM
611770
Clinvar variants
Variants in NKX2-6
Penetrance
None
Panels with this gene

History Filter Activity

26 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: NKX2-6 was added gene: NKX2-6 was added to Paediatric disorders - additional genes. Sources: South West GLH Mode of inheritance for gene: NKX2-6 was set to Unknown Phenotypes for gene: NKX2-6 were set to Conotruncal heart malformations; Persistent truncus arteriosus