NOTCH3

notch 3
OMIM: 600276, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green NOTCH3 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.32

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • review 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 0.86

    review 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 0.57

    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 0.314

    review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services

    Green NOTCH3 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review 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 0.573

    review 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 1.83

    review 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 0.143

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review 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 1.39

    review 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 1.16

    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

    review 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

    review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Red NOTCH3 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review 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