Clefting
Gene: NKX2-6

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

1 review

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

None of the four main sources cited NKX2-6 as having links to clefting or clefting-like disorders - the only disorders listed were cardiac. Literature searches did not provide any relevant papers linking the gene and phenotype in question
Created: 31 May 2017, 3:30 p.m.

Mode of inheritance
Unknown

Phenotypes
CONOTRUNCAL HEART MALFORMATIONS; CTHM

Created: 31 May 2017, 3:30 p.m.

Panel version: 0.328

Details

Mode of Inheritance

Unknown

Sources

Expert Review Red

Phenotypes

CONOTRUNCAL HEART MALFORMATIONS
CTHM

OMIM

611770

Clinvar variants

Variants in NKX2-6

Penetrance

Complete

Panels with this gene

History Filter Activity

31 May 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

31 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NKX2-6 was created by ellenmcdonagh