1. Genes and Genomic Entities
  2. NKX2-5

NKX2-5

NK2 homeobox 5
OMIM: 600584, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels
No list NKX2-5 in Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.15

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 1.20

review Not set
Sources
  • Emory Genetics Laboratory
Green NKX2-5 in Progressive cardiac conduction disease


Version 2.6
Latest signed off version: v2.2 (22 Mar 2023)

Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event

    		•  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 1.85

    		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 1.80

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    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 1.42

    		review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies
    Amber NKX2-5 in Laterality disorders and isomerism


    Version 3.9
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.63
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Not set
    Sources
    • Emory Genetics Laboratory
    Green NKX2-5 in Dilated and arrhythmogenic cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.22
    Latest signed off version: v2.8 (22 Mar 2023)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    Green NKX2-5 in Fetal anomalies


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    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 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.110
    Latest signed off version: v4.0 (22 Mar 2023)

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    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 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 2.18
    Latest signed off version: v2.2 (25 Feb 2020)

    		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 1.171

    		review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Ciliopathies
    Green NKX2-5 in Paediatric or syndromic cardiomyopathy


    Version 3.47
    Latest signed off version: v3.0 (22 Mar 2023)

    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
    Green NKX2-5 in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Tetralogy of Fallot, 187500
    • Conotruncal heart malformations, variable, 217095
    • Ventricular septal defect 3, 614432
    • Hypothyroidism, congenital nongoitrous, 5, 225250
    • Hypoplastic left heart syndrome 2, 614435
    • Atrial septal defect 7, with or without AV conduction defects, 108900