Dilated Cardiomyopathy

Gene: NKX2-5

Red List (low evidence)

NKX2-5 (NK2 homeobox 5)
EnsemblGeneIds (GRCh38): ENSG00000183072
EnsemblGeneIds (GRCh37): ENSG00000183072
OMIM: 600584, Gene2Phenotype
NKX2-5 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Established gene-disease association with multiple cardiac phenotypes.

PMID: 30354339 (2018) - NKX2.5 variant segregated with disease in one large Icelandic family (11 affecteds with the variant, 12 unaffecteds with the variant - some young). Not in GnomAD but in 1/7100 Icelanders (0.0001 pop freq)

PMID: 28690296 (2017) - Cohort of sporadic adult onset DCM, 2 unrelated individuals with novel variants (absent in their control cohort and GnomAD), functional analysis show significantly reduced transcriptional activity and downstream impact on targets GATA4 and TBX20.

PMID: 25503402 (2015) - Cohort of idiopathic DCM, one family with novel variant (absent in GnomAD), segregated with disease in 3 affected family members (3 meiosis, 2 siblings and a child). Functional analysis revealed significantly reduced transcriptional activity

PMID: 27855642 (2016) - Two unrelated families with multiple affecteds. Same residue, alternate changes, both absent in GnomAD. Non-segregation mentioned, reduced penetrance stated explanation.
Sources: Expert list
Created: 5 Aug 2020, 6:39 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dilated cardiomyopathy

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Dilated cardiomyopathy
OMIM
600584
Clinvar variants
Variants in NKX2-5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nkx2-5 has been classified as Red List (Low Evidence).

5 Aug 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NKX2-5 was added gene: NKX2-5 was added to Dilated Cardiomyopathy. Sources: Expert list Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NKX2-5 were set to 30354339; 28690296; 25503402; 27855642 Phenotypes for gene: NKX2-5 were set to Dilated cardiomyopathy Review for gene: NKX2-5 was set to RED