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Fetal anomalies

Gene: NKX2-6

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Conotruncal heart malformations - MIM#217095; Persistent truncus arteriosus - MIM#217095

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Review updated - 3 unrelated families now reported

PMID 15649947 (Heathcote et al 2005) - first reported biallelic variants NKX2-6 associated with type 1 truncus arteriosis in a large consanguineous family previously described by (Abushaban et al 2003 - 12574981)

PMID 24421281 (Ta-Shma et al 2014) Subsequently reported, another consanguineous family with conotruncal defects (including VSD and TA) and homozygous nonsense NKX2-6 variants. One individual from that family was
also noted to have athymia

PMID 32198970 (Ritter et al 2019) - Reported compound het variants in x2 siblings with truncus arteriosus (2nd sibling diagnosed antenatally) from non-consanguineous family

Additional studies of NKX2-6 identified a
- heterozygous missense variant c.472A > C (p.Lys158Gln) that segregated with VSD (PMID 25380965 Wang et al 2015)
- heterozygous missense variant c.525G > C (p.Gln175His) that segregated in a family with atrial fibrillation (PMID 25319568 Wang et al 2014)

Included in PanelApp as biallelic inheritance but possibility of less severe phenotype with monoallelic inheritance possible - but one reported family only.
Created: 20 Dec 2021, 6:49 a.m. | Last Modified: 20 Dec 2021, 6:49 a.m.
Panel Version: 0.1542
Homozygous variants were identified in multiple affected individuals from two unrelated consanguineous families. Phenotypic features included multiple conotruncal malformations, persistent truncus arteriosus and athymia
Created: 20 Dec 2021, 3:19 a.m. | Last Modified: 20 Dec 2021, 3:19 a.m.
Panel Version: 0.1469

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Conotruncal heart malformations - MIM#217095; Persistent truncus arteriosus - MIM#217095

Publications

Details

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

History Filter Activity

20 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NKX2-6 were set to 24421281; 15649947

20 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nkx2-6 has been classified as Green List (High Evidence).

20 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nkx2-6 has been classified as Amber List (Moderate Evidence).

20 Dec 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NKX2-6 were changed from to Conotruncal heart malformations - MIM#217095; Persistent truncus arteriosus - MIM#217095

20 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nkx2-6 has been classified as Amber List (Moderate Evidence).

20 Dec 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: NKX2-6 was added gene: NKX2-6 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: NKX2-6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NKX2-6 were set to 24421281; 15649947 Review for gene: NKX2-6 was set to GREEN