Dilated Cardiomyopathy
Gene: NKX2-5
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 listCreated: 5 Aug 2020, 6:39 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dilated cardiomyopathy
Publications
Gene: nkx2-5 has been classified as Red List (Low Evidence).
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