NKX2-1

PanelMode of inheritanceDetails
7 panels
R-numbers: R56
Signed-off version 1.121
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978, Chorea, hereditary benign, OMIM:118700
R-numbers: R57
Signed-off version 1.137
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978, Chorea, hereditary benign 118700
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 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS 610978, BENIGN HEREDITARY CHOREA 118700
R-numbers: R54
Signed-off version 2.13
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978, Chorea, hereditary benign 118700, Hereditary bening chorea, 118700, Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
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
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