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Skeletal dysplasia

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established association with multiple types of CHD.
Created: 28 Mar 2022, 6:04 a.m. | Last Modified: 28 Mar 2022, 6:04 a.m.
Panel Version: 0.12172

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ventricular septal defect 3 (MIM#614432); Tetralogy of Fallot (MIM#187500)

Publications

Dean Phelan (Victorian Clinical Genetics Services)

Green List (high evidence)

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.
Created: 5 Aug 2020, 6:31 a.m. | Last Modified: 5 Aug 2020, 6:31 a.m.
Panel Version: 0.3692

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

History Filter Activity

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NKX2-5 was added gene: NKX2-5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory Mode of inheritance for gene: NKX2-5 was set to