NOTCH3

notch 3
OMIM: 600276, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green NOTCH3 in Early-onset Dementia Level 2: Neurology and neurodevelopmental disorders Version 1.50 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310
Green NOTCH3 in Vasculitis Level 2: Immunological disorders Version 0.93	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes neurodevelopmental disorder MONDO:0700092, NOTCH3-related Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310
Amber NOTCH3 in Alternating Hemiplegia and Hemiplegic Migraine Level 2: Neurology and neurodevelopmental disorders Version 0.61	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310
Green NOTCH3 in Incidentalome Version 0.360	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Complex Neurology Flagship Victorian Clinical Genetics Services Phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310
Amber NOTCH3 in Lipodystrophy_Lipoatrophy Level 2: Dysmorphic and congenital abnormality syndromes Version 1.25	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Lipodystrophy, familial partial, type 1, MIM#608600
Green NOTCH3 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.267 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Phenotypes neurodevelopmental disorder MONDO:0700092, NOTCH3-related Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310
Green NOTCH3 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.594	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green NOTCH3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes neurodevelopmental disorder MONDO:0700092, NOTCH3-related Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM#125310
Green NOTCH3 in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.151 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes neurodevelopmental disorder MONDO:0700092, NOTCH3-related Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310
Red NOTCH3 in Pulmonary Arterial Hypertension Level 2: Cardiovascular disorders Version 1.45	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Pulmonary arterial hypertension MONDO:0015924, NOTCH3-related Tags disputed
Green NOTCH3 in Stroke Level 2: Neurology and neurodevelopmental disorders Version 1.28	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Green NOTCH3 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
Green NOTCH3 in Incidentalome_PREGEN_DRAFT Version 0.43	0 reviews	Unknown	Sources NSW Health Pathology Expert Review Green
Red NOTCH3 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM# 125310