This Panel is marked as Internal
Sudden cardiac death - previous panel
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
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- London South GLH
- Expert Review Red
- London South GLH
- Expert Review Red
- Phenotypes
-
- Atrialseptaldefect7,withorwithoutAVconductiondefects,108900
- OMIM
- 600584
- Clinvar variants
- Variants in NKX2-5
- Penetrance
- None
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Sudden death in young people
- Laterality disorders and isomerism
- Clefting
- Familial non syndromic congenital heart disease
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Skeletal dysplasia
- Dilated and arrhythmogenic cardiomyopathy
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Progressive cardiac conduction disease
- DDG2P
- Congenital hypothyroidism
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
9 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 Sudden cardiac death. 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