NKX2-5

NK2 homeobox 5
OMIM: 600584, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green NKX2-5 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.474	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ventricular septal defect 3 (MIM#614432) Tetralogy of Fallot (MIM#187500)
Green NKX2-5 in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 1.48 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Dilated cardiomyopathy
Green NKX2-5 in Mendeliome Version 1.3512	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Atrial septal defect 7, with or without AV conduction defects, MIM# 108900 Ventricular septal defect 3 (MIM#614432) Tetralogy of Fallot (MIM#187500)
Red NKX2-5 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	2 reviews	Not set	Sources Expert Review Green Emory Genetics Laboratory Victorian Clinical Genetics Services
Green NKX2-5 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.207	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS Phenotypes Atrialseptaldefect7,withorwithoutAVconductiondefects,108900
Amber NKX2-5 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber BabySeq Category B gene Phenotypes Congenital heart disease
Red NKX2-5 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.278	0 reviews	Unknown	Sources Expert Review Red Phenotypes CTHM CONOTRUNCAL HEART MALFORMATIONS
Green NKX2-5 in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 0.53	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Hypothyroidism, congenital nongoitrous, 5, 225250 thyrioid ectopy, thyroid agenesis, congenital heart disease
Green NKX2-5 in Fetal anomalies Version 1.465	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Atrial septal defect 7, with or without AV conduction defects, MIM# 108900 Hypoplastic left heart syndrome 2, MIM# 614435 Tetralogy of Fallot, MIM# 187500 Ventricular septal defect 3, MIM# 614432 Hypothyroidism, congenital nongoitrous, 5, MIM# 225250
Green NKX2-5 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	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
Green NKX2-5 in Cardiac conduction disease Level 2: Cardiovascular disorders Version 1.3 Component of the following Super Panels: Adult Cardiac SuperPanel Arrhythmia_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes NKX2.5-related congenital, conduction and myopathic heart disease MONDO:0800441