NKX2-5

NK2 homeobox 5
OMIM: 600584, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
No list NKX2-5 in Sudden death in young people Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Version 1.16	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Other Phenotypes Ventricular septal defect 3, 614432 sudden cardiac death Tags curated_removed
Red NKX2-5 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.24	review	Not set	Sources Emory Genetics Laboratory
Green NKX2-5 in Progressive cardiac conduction disease Level 2: Cardiology Version 2.13 Latest signed off version: v2.10 (30 Apr 2025) 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	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH London South GLH Phenotypes Atrial septal defect 7, with or without AV conduction defects OMIM:108900
Red NKX2-5 in Dilated Cardiomyopathy and conduction defects Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.97	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Radboud University Medical Center, Nijmegen Phenotypes Atrialseptaldefect7,withorwithoutAVconductiondefects,108900
Green NKX2-5 in Familial non syndromic congenital heart disease Level 3: Congenital heart disease Level 2: Cardiovascular disorders Version 1.90	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Mutations in the NKX2-5 gene have been associated with atrioventricular (AV) conduction block, septal defects, conotruncal abnormalities (particularly Tetrology of Fallot), and AV valve formation defects. Hypoplastic left heart syndrome 2 Atrioventricular (AV) conduction block septal defects conotruncal abnormalities, particularly Tetrology of Fallot AV valve formation defects
Red NKX2-5 in Primary ciliary disorders Level 3: Respiratory ciliopathies Level 2: Ciliopathies Version 1.56	review	Not set	Sources Emory Genetics Laboratory Phenotypes ciliopathies
Amber NKX2-5 in Laterality disorders and isomerism Level 2: Respiratory Version 4.10 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Phenotypes visceral heterotaxy, MONDO:0018677
Red NKX2-5 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.33 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Emory Genetics Laboratory
Green NKX2-5 in Dilated and arrhythmogenic cardiomyopathy Level 2: Cardiology Version 3.11 Latest signed off version: v3.0 (30 Apr 2025) 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	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS
Green NKX2-5 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS TETRALOGY OF FALLOT CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5
Green NKX2-5 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS 108900 TETRALOGY OF FALLOT 187500 CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5 225250
Red NKX2-5 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 NKX2-5 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Atrial septal defect 7, with or without AV conduction defects, 108900 Tetrology of Fallot, 187500 Hypothyroidism, congenital nongoitrous, 5, 225250 Ventricular septal defect 3, 614432 Hypoplastic left heart syndrome 2, 614435 Conotruncal heart malformations, variable, 217095
Amber NKX2-5 in Congenital hypothyroidism Level 2: Endocrinology Version 3.3 Latest signed off version: v3.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Other Phenotypes Hypothyroidism, congenital nongoitrous, 5, 225250 thyrioid ectopy, thyroid agenesis, congenital heart disease
Red NKX2-5 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.180	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Ciliopathies
Green NKX2-5 in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.96 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green London South GLH Phenotypes Atrialseptaldefect7,withorwithoutAVconductiondefects,108900