Familial non syndromic congenital heart diseaseGene: NKX2-5
Comment on list classification: Mutations reported in at least 11 families with ASD. Also reported in small numbers in VSD, TOF and HLH. May have decreased penetrance
Created: 24 Nov 2016, 12:21 p.m.
This is a confirmed DD gene for atrial septal defect with atrioventricular conduction defects, congenital hypothyroidism non-goitrous type 5, and tetralogy of fallot.
Created: 22 Jul 2016, 8:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Promoted to version 1 by Alice Gardham on 26th January
Mode of inheritance for NKX2-5 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
NKX2-5 was created by ellenmcdonagh
NKX2-5 was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert Review Green