This Panel is marked as Internal
Isomerism and laterality disorders
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
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Radboud University Medical Center, Nijmegen
- Literature
- Phenotypes
-
- Atrial septal defect 7, with or without AV conduction defects, 108900
- OMIM
- 600584
- Clinvar variants
- Variants in NKX2-5
- Penetrance
- Complete
- Publications
-
- doi:10.1016/j.ejmg.2005.12.003
- Panels with this gene
-
- Sudden death in young people
- Rare multisystem ciliopathy disorders
- Clefting
- Paediatric or syndromic cardiomyopathy
- Laterality disorders and isomerism
- Intellectual disability
- Familial non syndromic congenital heart disease
- Dilated Cardiomyopathy and conduction defects
- Progressive cardiac conduction disease
- Congenital hypothyroidism
- Fetal anomalies
- Dilated and arrhythmogenic cardiomyopathy
- Skeletal dysplasia
- DDG2P
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
16 May 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)NKX2-5 was added to Isomerism and laterality disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Literature
16 May 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)NKX2-5 was created by ellenmcdonagh