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  2. Congenital hypothyroidism
  3. NKX2-1
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Congenital hypothyroidism

Gene: NKX2-1

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

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction, 610978
OMIM
600635
Clinvar variants
Variants in NKX2-1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nkx2-1 has been classified as Green List (High Evidence).

3 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NKX2-1 were changed from Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction, 610978; Congenital hypothyroidism; Neurological abnormalities; CAHTP; neonatal respiratory distress syndrome; recurrent respiratory infections; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978; benign hereditary chorea to Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction, 610978

3 Feb 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NKX2-1 was added gene: NKX2-1 was added to Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NKX2-1 were set to 11854319; 24714694 Phenotypes for gene: NKX2-1 were set to Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction, 610978; Congenital hypothyroidism; Neurological abnormalities; CAHTP; neonatal respiratory distress syndrome; recurrent respiratory infections; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978; benign hereditary chorea