1. Genes and Genomic Entities
  2. NKX2-1

NKX2-1

NK2 homeobox 1
OMIM: 600635, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels
Amber NKX2-1 in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.10

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 1.7

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 1.31

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • 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 1.80

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


Version 4.64
Latest signed off version: v4.0 (22 Mar 2023)

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


    Version 3.12
    Latest signed off version: v3.0 (22 Mar 2023)

    		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


    Version 3.10
    Latest signed off version: v3.0 (22 Mar 2023)

    		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


    Version 1.11
    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


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    		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


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    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


    Version 4.34
    Latest signed off version: v4.0 (22 Mar 2023)

    		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 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 2.18
    Latest signed off version: v2.2 (25 Feb 2020)

    		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


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    		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


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Chorea, hereditary benign, 118700
    • Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978
    Green NKX2-1 in Pulmonary fibrosis familial

    Level 3: Interstitial lung disorders
    Level 2: Respiratory disorders
    Version 1.7
    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


    Version 1.5
    Latest signed off version: v1.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert list
    Phenotypes
    • Megacolon, oesophageal atresia