NKX2-6

NK2 homeobox 6
OMIM: 611770, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red NKX2-6 in Familial non syndromic congenital heart disease

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.90

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Conotruncal heart malformations 217095, Persistent truncus arteriosus 217095
Red NKX2-6 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Conotruncal heart malformations
  • Conotruncal heart malformations, OMIM:217095
  • Persistent truncus arteriosus, OMIM:217095
  • Persistent truncus arteriosus
Red NKX2-6 in Clefting


Level 2: Musculoskeletal
Version 6.20
Latest signed off version: v6.5 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • CONOTRUNCAL HEART MALFORMATIONS
    • CTHM
    Red NKX2-6 in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 7.31
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Unknown
    Sources
    • South West GLH
    Phenotypes
    • Conotruncal heart malformations
    • Persistent truncus arteriosus