NKX2-1

NK2 homeobox 1
OMIM: 600635, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green NKX2-1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress, MIM# 610978
Green NKX2-1 in Mendeliome Version 2.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, MONDO:0100520 Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978 Chorea, hereditary benign MIM#118700
Green NKX2-1 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978
Green NKX2-1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978
Green NKX2-1 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978 Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978 Chorea, hereditary benign 118700 Hereditary bening chorea, 118700
Green NKX2-1 in Dystonia and Chorea Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Chorea, hereditary benign MIM#118700 Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978
Green NKX2-1 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Green NKX2-1 in Incidentalome_PREGEN_DRAFT Version 1.0	0 reviews	Unknown	Sources NSW Health Pathology Expert Review Green
Green NKX2-1 in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 1.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Genomics England PanelApp Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction, 610978
Amber NKX2-1 in Fetal anomalies Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress - MIM#610978
Green NKX2-1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category A gene Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978 Tags treatable endocrine