KCNK3

potassium two pore domain channel subfamily K member 3
OMIM: 603220, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green KCNK3 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, KCNK3-related developmental delay with sleep apnoea (DDSA)
Green KCNK3 in Central Hypoventilation Level 2: Neurology and neurodevelopmental disorders Version 1.5	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, KCNK3-related developmental delay with sleep apnoea (DDSA)
Green KCNK3 in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 0.293	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, KCNK3-related developmental delay with sleep apnoea (DDSA)
Amber KCNK3 in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Pulmonary hypertension, primary, 4 MIM#615344
Green KCNK3 in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pulmonary hypertension, primary, 4 MIM#615344 Neurodevelopmental disorder, MONDO:0700092, KCNK3-related
Green KCNK3 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, KCNK3-related developmental delay with sleep apnoea (DDSA)
Amber KCNK3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Phenotypes Neurodevelopmental disorder, MONDO:0700092, KCNK3-related
Green KCNK3 in Pulmonary Arterial Hypertension Level 2: Cardiovascular disorders Version 1.39	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Pulmonary hypertension, primary, 4 MIM#615344
Green KCNK3 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092, KCNK3-related developmental delay with sleep apnoea (DDSA)