NKX2-5

NK2 homeobox 5
OMIM: 600584, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green NKX2-5 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	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)
Red NKX2-5 in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 1.33 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Dilated cardiomyopathy
Green NKX2-5 in Mendeliome Version 1.1891	review	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 0.285	review	Not set	Sources Expert Review Green Emory Genetics Laboratory Victorian Clinical Genetics Services
Green NKX2-5 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	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	review	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 0.252	review	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 0.43	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 1.255	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 BabyScreen+ newborn screening Level 2: Screening Version 1.113	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