BabyScreen+ newborn screening
Gene: NKX2-5

NKX2-5 (NK2 homeobox 5)
EnsemblGeneIds (GRCh38): ENSG00000183072
EnsemblGeneIds (GRCh37): ENSG00000183072
OMIM: 600584, Gene2Phenotype
NKX2-5 is in 10 panels

1 review

Ari Horton (Monash Genetics)

Green List (high evidence)

NKX2-5 associated with neonatal onset cardiomyopathy - DCM/LVNC
Differential diagnosis for metabolic cardiomyopathy
Helps direct diagnostic process and reduce length of stay and diagnostic journey
Not responsive to metabolic cocktails
Early transplant assessment
Diagnosis of individual
Risk and screening for others
Early institution of heart failure therapy
Associated with 3 phenoytpes - Congenital Heart Disease, Arrhtyhmia (progressive congenital complete heart block, AF, VT)
Would monitor for CCD and put in early pacemaker if issues on holter to reduce risk SCD/arrest
Created: 15 Feb 2023, 4:19 a.m. | Last Modified: 15 Feb 2023, 4:19 a.m.

Panel Version: 0.1865

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neonatal onset cardiomyopathy; Congenital Heart Disease

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Feb 2023, 4:19 a.m.
Last Modified: 15 Feb 2023, 4:19 a.m.
Panel version: 0.1865

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
BabySeq Category B gene

Phenotypes

Atrial septal defect 7, with or without AV conduction defects, MIM# 108900

Tags

cardiac treatable

OMIM

600584

Clinvar variants

Variants in NKX2-5

Penetrance

None

Panels with this gene