NKX2-1

NK2 homeobox 1
OMIM: 600635, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Amber NKX2-1 in Familial Hirschsprung Disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.11	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Other Phenotypes Hirschsprung disease short-segment aganglionosis Tags watchlist
Red NKX2-1 in Inherited non-medullary thyroid cancer Level 3: Breast and endocrine Level 2: Tumour syndromes Version 1.8	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes {Thyroid cancer, monmedullary, 1} 188550
Green NKX2-1 in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.32	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 Associated with pulmonary fibrosis, but strong recurrent infection signal
Red NKX2-1 in Brain channelopathy Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Phenotypes Chorea, hereditary benign 118700 Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978
Green NKX2-1 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress OMIM hereditary progressive chorea without dementia MONDO:0021011:610978 brain-lung-thyroid syndrome MONDO:0012593 Chorea, hereditary benign OMIM:118700
Red NKX2-1 in Pituitary hormone deficiency Level 2: Endocrinology Version 4.4 Latest signed off version: v4.0 (30 Apr 2025)	review	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
Red NKX2-1 in Paroxysmal central nervous system disorders Level 2: Neurology Version 4.2 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS London North GLH Wessex and West Midlands GLH Expert Review Red Phenotypes Chorea, hereditary benign 118700 Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Green NKX2-1 in Surfactant deficiency Level 2: Respiratory Version 1.12 Latest signed off version: v1.2 (2 Mar 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Neuroendocrine cell hyperplasia of infancy Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978
Red NKX2-1 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Chorea, hereditary benign 118700 Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978
Red NKX2-1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.138 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes BENIGN HEREDITARY CHOREA CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS
Green NKX2-1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS 610978 BENIGN HEREDITARY CHOREA 118700
Green NKX2-1 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Goiter, familial, due to TTF-1 defect (1)Chorea, hereditary benign, 118700Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 BENIGN HEREDITARY CHOREA
Green NKX2-1 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Brain channelopathy v1.46 Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978 Chorea, hereditary benign 118700 Hereditary bening chorea, 118700 Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978
Green NKX2-1 in Congenital hypothyroidism Level 2: Endocrinology Version 3.3 Latest signed off version: v3.0 (30 Apr 2025)	review	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
Green NKX2-1 in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978 Chorea, hereditary benign, OMIM:118700
Green NKX2-1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green PanelApp South West GLH Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978 Chorea, hereditary benign 118700
Green NKX2-1 in Pulmonary fibrosis familial Level 2: Respiratory Version 1.8 Latest signed off version: v1.3 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978
Red NKX2-1 in Paediatric pseudo-obstruction syndrome Level 2: Gastrohepatology Version 2.5 Latest signed off version: v2.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Phenotypes Megacolon, oesophageal atresia