Genomics England
GMS Panels
Panels
Genes and Entities

NKX2-5

NK2 homeobox 5
OMIM: 600584
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS 108900, TETRALOGY OF FALLOT 187500, CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5 225250
Green
in Dilated and arrhythmogenic cardiomyopathy
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R132
Signed-off version 2.32
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS, TETRALOGY OF FALLOT, CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Atrialseptaldefect7,withorwithoutAVconductiondefects,108900
Green
in Progressive cardiac conduction disease
Component of the following Super Panels:
  • - Sudden unexplained death or survivors of a cardiac event
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R328
Signed-off version 2.9
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Atrial septal defect 7, with or without AV conduction defects OMIM:108900