NKX2-5

PanelMode of inheritanceDetails
5 panels
R-numbers: R135
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Atrialseptaldefect7,withorwithoutAVconductiondefects,108900
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
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
Component of the following Super Panels:
  • - Sudden cardiac death
R-numbers: R132
Signed-off version 1.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS, TETRALOGY OF FALLOT, CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5
Component of the following Super Panels:
  • - Sudden cardiac death
R-numbers: R328
Signed-off version 1.5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Atrial septal defect 7, with or without AV conduction defects 108900