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 14 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: 1 Green review plus confirmed DD-G2P gene for MIM:610978 plus >3 cases of NKX2-1 variants causing Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978.
Created: 13 Feb 2017, 10:18 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM and G2P.
Created: 13 Feb 2017, 10:10 a.m.

Nadia Schoenmakers (University of Cambridge)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurological abnormalities; benign hereditary chorea; neonatal respiratory distress syndrome; recurrent respiratory infections

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital hypothyroidism
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978
  • Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction, 610978
  • CAHTP
  • Neurological abnormalities
  • benign hereditary chorea
  • neonatal respiratory distress syndrome
  • recurrent respiratory infections
OMIM
600635
Clinvar variants
Variants in NKX2-1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22 February 2017: Promoted to Version 1. Reviews were assessed, and panel was revised according to expert review and additional curation. After discussion with the reviewer and in-house clinicians, it was agreed to include the genes for 'combined pituitary hormone deficiency' (CPHD) on the panel, since patients can present with central hypothyroidism (CH). In these cases, CH does not occur in isolation, but is one of the evolving pituitary hormone deficiencies.

22 Feb 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for NKX2-1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

13 Feb 2017, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for NKX2-1 were set to 24714694; 11854319

13 Feb 2017, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

13 Feb 2017, Gel status: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for NKX2-1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

23 Jan 2017, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

NKX2-1 was added to Congenital hypothyroidism or thyroid agenesispanel. Source: Other

23 Jan 2017, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

NKX2-1 was added to Congenital hypothyroidism or thyroid agenesispanel. Source: Illumina TruGenome Clinical Sequencing Services

23 Jan 2017, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

NKX2-1 was added to Congenital hypothyroidism or thyroid agenesispanel. Source: Radboud University Medical Center, Nijmegen

13 Oct 2016, Gel status: 1

Set Mode of Inheritance

Olivia Niblock (Genomics England Curator)

Model of inheritance for gene NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Oct 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

NKX2-1 was added to Congenital hypothyroidism or thyroid agenesispanel. Sources: UKGTN

13 Oct 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

NKX2-1 was created by oniblock