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Fetal anomalies

Gene: NKX2-6

Red List (low evidence)
NKX2-6 (NK2 homeobox 6)
EnsemblGeneIds (GRCh38): ENSG00000180053
EnsemblGeneIds (GRCh37): ENSG00000180053
OMIM: 611770, Gene2Phenotype
NKX2-6 is in 4 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

Red rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Sunayna Best (Leeds Teaching Hospitals NHS Trust)

Red List (low evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Can't find reference to this gene in the listed PMID paper (El-Dessouky et al) given ahead of this panel assessment. Ritter et al PMID 32198970 - 1 family. 2 pregnancies with biallelic variants in this gene with truncus arteriosus, 1 diagnosed antenatally. Computer protein modelling only functional test. Ta-Shma 2013: 3 unrelated patients with truncus, all diagnosed shortly after birth. 2005 report from Heathcote et al, 1 family, little detail
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Conotruncal heart malformations; Persistent truncus arteriosus

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Denise Williams (Birmingham Women's and Children's NHS Foundation Trust)

Red List (low evidence)

Isolated CHD of AF in three families - but isolated CHD is not an indication for R21. Red on other panels including cardiac, Red
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Persistent truncus arteriosus, OMIM:217095; Conotruncal heart malformations, OMIM:217095

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Conotruncal heart malformations
  • Conotruncal heart malformations, OMIM:217095
  • Persistent truncus arteriosus, OMIM:217095
  • Persistent truncus arteriosus
OMIM
611770
Clinvar variants
Variants in NKX2-6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 1

Set Phenotypes, Set publications

Arina Puzriakova (Genomics England Curator)

Added phenotypes Conotruncal heart malformations; Persistent truncus arteriosus for gene: NKX2-6 Publications for gene: NKX2-6 were updated from 32198970; 15649947; 24421281; 25319568; 25380965 to 25319568; 15649947; 32198970; 39891418; 25380965; 24421281

29 Aug 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: NKX2-6 was added gene: NKX2-6 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: NKX2-6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NKX2-6 were set to 32198970; 15649947; 24421281; 25319568; 25380965 Phenotypes for gene: NKX2-6 were set to Persistent truncus arteriosus, OMIM:217095; Conotruncal heart malformations, OMIM:217095