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  3. NKX2-5
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Congenital hypothyroidism

Gene: NKX2-5

Green List (high evidence)
NKX2-5 (NK2 homeobox 5)
EnsemblGeneIds (GRCh38): ENSG00000183072
EnsemblGeneIds (GRCh37): ENSG00000183072
OMIM: 600584, Gene2Phenotype
NKX2-5 is in 10 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Multiple patients in 4 papers reported
Created: 3 Feb 2021, 4:10 a.m. | Last Modified: 3 Feb 2021, 4:10 a.m.
Panel Version: 0.8

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypothyroidism, congenital nongoitrous, 5, OMIM # 225250; thyrioid ectopy, thyroid agenesis, congenital heart disease

Publications

Created: 3 Feb 2021, 4:10 a.m.
Last Modified: 3 Feb 2021, 4:10 a.m.
Panel version: 0.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hypothyroidism, congenital nongoitrous, 5, 225250
  • thyrioid ectopy, thyroid agenesis, congenital heart disease
OMIM
600584
Clinvar variants
Variants in NKX2-5
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
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: nkx2-5 has been classified as Green List (High Evidence).

3 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: nkx2-5 has been classified as Green List (High Evidence).

3 Feb 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NKX2-5 was added gene: NKX2-5 was added to Congenital hypothyroidism. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NKX2-5 were set to 16418214 Phenotypes for gene: NKX2-5 were set to Hypothyroidism, congenital nongoitrous, 5, 225250; thyrioid ectopy, thyroid agenesis, congenital heart disease Mode of pathogenicity for gene: NKX2-5 was set to Other - please provide details in the comments