Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: NKX2-5

Green List (high evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Atrial septal defect 7, with or without AV conduction defects, MIM# 108900
  • Hypoplastic left heart syndrome 2, MIM# 614435
  • Tetralogy of Fallot, MIM# 187500
  • Ventricular septal defect 3, MIM# 614432
  • Hypothyroidism, congenital nongoitrous, 5, MIM# 225250
OMIM
600584
Clinvar variants
Variants in NKX2-5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2022, 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).

2 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

2 Mar 2022, Gel status: 3

Set Phenotypes

Alison Yeung (Victorian Clinical Genetics Services)

Phenotypes for gene: NKX2-5 were changed from CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5; TETRALOGY OF FALLOT; ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS to Atrial septal defect 7, with or without AV conduction defects, MIM# 108900; Hypoplastic left heart syndrome 2, MIM# 614435; Tetralogy of Fallot, MIM# 187500; Ventricular septal defect 3, MIM# 614432; Hypothyroidism, congenital nongoitrous, 5, MIM# 225250

2 Mar 2022, Gel status: 3

Set publications

Alison Yeung (Victorian Clinical Genetics Services)

Publications for gene: NKX2-5 were set to

2 Mar 2022, Gel status: 3

Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

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

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NKX2-5 was added gene: NKX2-5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NKX2-5 were set to CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5; TETRALOGY OF FALLOT; ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS