Congenital hypothyroidism
Gene: NKX2-1Comment 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.
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.
Mode of inheritance for NKX2-1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Publications for NKX2-1 were set to 24714694; 11854319
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
Mode of inheritance for NKX2-1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NKX2-1 was added to Congenital hypothyroidism or thyroid agenesispanel. Source: Other
NKX2-1 was added to Congenital hypothyroidism or thyroid agenesispanel. Source: Illumina TruGenome Clinical Sequencing Services
NKX2-1 was added to Congenital hypothyroidism or thyroid agenesispanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
NKX2-1 was added to Congenital hypothyroidism or thyroid agenesispanel. Sources: UKGTN
NKX2-1 was created by oniblock