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Fetal anomalies

Gene: NKX2-1

Amber List (moderate evidence)

NKX2-1 (NK2 homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000136352
EnsemblGeneIds (GRCh37): ENSG00000136352
OMIM: 600635, Gene2Phenotype
NKX2-1 is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Associated with congenital heart disease, other features would be difficult to detect in the fetus.
Created: 21 Feb 2022, 7:53 a.m. | Last Modified: 21 Feb 2022, 7:53 a.m.
Panel Version: 0.3742

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Heterozygous variants associated with congenital hypothyroidism, choreathetosis with or without pulmonary dysfunction. Allelic disorder to benign hereditary chorea (118700), which is less severe. Hypoplasia of the thyroid reported in some individuals. OMIM also reports septal heart defects noted in some patients.
Sources: Literature
Created: 21 Feb 2022, 1:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Choreoathetosis, hypothyroidism, and neonatal respiratory distress - MIM#610978

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress - MIM#610978
OMIM
600635
Clinvar variants
Variants in NKX2-1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nkx2-1 has been classified as Amber List (Moderate Evidence).

21 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nkx2-1 has been classified as Amber List (Moderate Evidence).

21 Feb 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: NKX2-1 was added gene: NKX2-1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NKX2-1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NKX2-1 were set to 23911641; 11854319; 24714694 Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress - MIM#610978 Review for gene: NKX2-1 was set to GREEN