NOTCH3

notch 3
OMIM: 600276, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Red NOTCH3 in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.1

review Not set
Sources
  • Literature

Red NOTCH3 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.51
Latest signed off version: v2.2 (2 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Yorkshire and North East GLH
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • UKGTN
Phenotypes
  • Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy
  • Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
  • Moyamoya disease
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310
  • Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy (CADASIL)

Green NOTCH3 in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.48

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Dementia

Red NOTCH3 in White matter disorders and cerebral calcification - narrow panel


Version 1.72
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY

    Green NOTCH3 in Familial cerebral small vessel disease

    Level 3: Arteriopathies
    Level 2: Cardiovascular disorders
    Version 1.10

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert list
    • Expert Review Green
    • UKGTN
    • Eligibility statement prior genetic testing
    • Other
    Phenotypes
    • Migraine
    • Encephalopathy
    • Stroke
    • Cognitive impairment
    • Dementia
    • Seizures
    • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 125310

    Red NOTCH3 in Tumour predisposition - childhood onset

    Level 3: Childhood Tumours
    Level 2: Tumour syndromes
    Version 2.17
    Latest signed off version: v2.5 (4 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Literature
    Phenotypes
    • Infantile myofibromatosis

    Green NOTCH3 in White matter disorders - adult onset


    Version 1.10
    Latest signed off version: v1.6 (15 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310

    Red NOTCH3 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.94

    review Not set
    Sources
    • UKGTN
    Phenotypes
    • CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY

    Green NOTCH3 in Neurodegenerative disorders - adult onset


    Version 2.174
    Latest signed off version: v2.31 (8 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310

    Red NOTCH3 in DDG2P


    Version 2.27
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • INFANTILE MYOFIBROMATOSIS 615293

    Green NOTCH3 in Severe Paediatric Disorders


    Version 1.76

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310
    • Lateral meningocele syndrome, 130720
    • ?Myofibromatosis, infantile 2, 615293