Pituitary hormone deficiency
Gene: NKX2-1EnsemblGeneIds (GRCh38): ENSG00000136352
EnsemblGeneIds (GRCh37): ENSG00000136352
OMIM: 600635, Gene2Phenotype
NKX2-1 is in 18 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on list classification: There is only 1 reported case to date of a patient with haploinsufficiency in NKX2-1 and pituitary hormone deficiency, so rating this gene as red for now.Created: 18 Sep 2022, 9:14 p.m. | Last Modified: 18 Sep 2022, 9:14 p.m.
Panel Version: 2.61
Associated with Choreoathetosis, hypothyroidism, and neonatal respiratory distress #610978 (AD) in OMIM.
Heterozygous mutations or haploinsufficiency of NKX2-1 are associated with the brain-lung-thyroid syndrome, Prasad et al 2019 (PMID:31707387) report a case of a patient with profound hypopituitarism in the early neonatal period in addition to undetectable tissue on thyroid ultrasonography, who was subsequently diagnosed with brain-lung-thyroid syndrome. She was found by CGH microarray to have 2 de novo deletions, a 4.9-Mb deletion in 14q13.2-q21.1 and a 404-kb deletion in 3 p12.3-p13. The 14q deletion contains 21 genes including NKX2-1. The deletion of this gene was thought to explain the phenotype.Created: 18 Sep 2022, 9:11 p.m. | Last Modified: 18 Sep 2022, 9:11 p.m.
Panel Version: 2.57
Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. Prasad R, Nicholas AK, Schoenmakers N, Barton J.Horm Res Paediatr. 2019;92(5):340-344. doi: 10.1159/000503683. Epub 2019 Nov 8.PMID:31707387Created: 14 Sep 2022, 4:44 p.m. | Last Modified: 14 Sep 2022, 4:44 p.m.
Panel Version: 2.15
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BRAIN-THYROID-LUNG SYNDROME
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Expert review
- Phenotypes
-
- Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978
- brain-lung-thyroid syndrome, MONDO:0012593
- OMIM
- 600635
- Clinvar variants
- Variants in NKX2-1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Familial pulmonary fibrosis
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Adult onset neurodegenerative disorder
- Surfactant deficiency
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Pulmonary fibrosis familial
- Inherited non-medullary thyroid cancer
- Brain channelopathy
- Fetal anomalies
- Congenital hypothyroidism
- Pituitary hormone deficiency
- Paroxysmal central nervous system disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: nkx2-1 has been classified as Red List (Low Evidence).
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: NKX2-1 were changed from to Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978; brain-lung-thyroid syndrome, MONDO:0012593
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: NKX2-1 were set to
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: NKX2-1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: NKX2-1 was added gene: NKX2-1 was added to Pituitary hormone deficiency. Sources: Expert review Mode of inheritance for gene: NKX2-1 was set to