Familial non syndromic congenital heart disease
Gene: NKX2-5
NKX2-5 (NK2 homeobox 5)
EnsemblGeneIds (GRCh38): ENSG00000183072
EnsemblGeneIds (GRCh37): ENSG00000183072
OMIM: 600584, Gene2Phenotype
NKX2-5 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000183072
EnsemblGeneIds (GRCh37): ENSG00000183072
OMIM: 600584, Gene2Phenotype
NKX2-5 is in 16 panels
2 reviews
Alice Gardham (Genomics England)
Comment on list classification: Mutations reported in at least 11 families with ASD. Also reported in small numbers in VSD, TOF and HLH. May have decreased penetranceCreated: 24 Nov 2016, 12:21 p.m.
Ellen McDonagh (Genomics England Curator)
This is a confirmed DD gene for atrial septal defect with atrioventricular conduction defects, congenital hypothyroidism non-goitrous type 5, and tetralogy of fallot.Created: 22 Jul 2016, 8:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- 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
- OMIM
- 600584
- Clinvar variants
- Variants in NKX2-5
- Penetrance
- Complete
- Panels with this gene
-
- Laterality disorders and isomerism
- Dilated and arrhythmogenic cardiomyopathy
- Familial non syndromic congenital heart disease
- DDG2P
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Clefting
- Progressive cardiac conduction disease
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Congenital hypothyroidism
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Sudden death in young people
History Filter Activity
26 Jan 2017, Gel status: 4
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January
19 Dec 2016, Gel status: 4
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for NKX2-5 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
28 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
28 Nov 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NKX2-5 was created by ellenmcdonagh
28 Nov 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)NKX2-5 was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert Review Green