Genomics England

NKX2-1

NK2 homeobox 1

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 3.19	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978, Chorea, hereditary benign, OMIM:118700
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978, Chorea, hereditary benign 118700
Green in Congenital hypothyroidism R-numbers: R145 Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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 in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS 610978, BENIGN HEREDITARY CHOREA 118700
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978, Chorea, hereditary benign 118700, Hereditary bening chorea, 118700, Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Goiter, familial, due to TTF-1 defect (1)Chorea, hereditary benign, 118700Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978, BENIGN HEREDITARY CHOREA
Green in Pulmonary fibrosis familial R-numbers: R421 Signed-off version 1.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978
Green in Surfactant deficiency R-numbers: R192 Signed-off version 1.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Neuroendocrine cell hyperplasia of infancy, Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978