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Congenital Heart Defect
Gene: NKX2-5

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

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Well reported in CHD patients/families

PMID: 26805889: Review article
Created: 31 May 2020, 11:07 p.m. | Last Modified: 31 May 2020, 11:07 p.m.

Panel Version: 0.40

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Publications

Created: 31 May 2020, 11:07 p.m.
Last Modified: 31 May 2020, 11:07 p.m.
Panel version: 0.40

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

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

OMIM

Clinvar variants

Variants in NKX2-5

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nkx2-5 has been classified as Green List (High Evidence).

1 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NKX2-5 were changed from to Ventricular septal defect 3 (MIM#614432); Tetralogy of Fallot (MIM#187500)

1 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NKX2-5 were set to

1 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NKX2-5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NKX2-5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

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 Congenital Heart Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NKX2-5 was set to Unknown