Paediatric or syndromic 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)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- London South GLH
- Phenotypes
-
- Atrialseptaldefect7,withorwithoutAVconductiondefects,108900
- OMIM
- 600584
- Clinvar variants
- Variants in NKX2-5
- Penetrance
- None
- Panels with this gene
-
- Familial non syndromic congenital heart disease
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Dilated Cardiomyopathy and conduction defects
- Fetal anomalies
- Progressive cardiac conduction disease
- Paediatric or syndromic cardiomyopathy
- Laterality disorders and isomerism
- Rare multisystem ciliopathy disorders
- Congenital hypothyroidism
- Intellectual disability
- Thoracic dystrophies
- Primary ciliary disorders
- Skeletal dysplasia
- Clefting
- Sudden death in young people
History Filter Activity
2 Dec 2019, Gel status: 3
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: NKX2-5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
2 Dec 2019, Gel status: 3
Added New Source, Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to NKX2-5. Source NHS GMS was added to NKX2-5. Rating Changed from Red List (low evidence) to Green List (high evidence)
4 Sep 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: NKX2-5 was added gene: NKX2-5 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,London South GLH Mode of inheritance for gene: NKX2-5 was set to Unknown Phenotypes for gene: NKX2-5 were set to Atrialseptaldefect7,withorwithoutAVconductiondefects,108900