Dilated and arrhythmogenic cardiomyopathy
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
1 review
Ivone Leong (Genomics England Curator)
New gene submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.
Panel Version: 0.52
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- OMIM
- 600584
- Clinvar variants
- Variants in NKX2-5
- Penetrance
- None
- Panels with this gene
-
- Laterality disorders and isomerism
- Dilated and arrhythmogenic cardiomyopathy
- Familial non syndromic congenital heart disease
- DDG2P
- Fetal anomalies
- Dilated Cardiomyopathy and conduction defects
- Clefting
- Progressive cardiac conduction disease
- Paediatric or syndromic cardiomyopathy
- Skeletal dysplasia
- Congenital hypothyroidism
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Sudden death in young people
- Intellectual disability
History Filter Activity
3 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: NKX2-5 was added gene: NKX2-5 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown