1. Genes and Genomic Entities
  2. NOTCH2

NOTCH2

notch 2
OMIM: 600275, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels
Red NOTCH2 in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.3

review Not set
Sources
  • Literature
Green NOTCH2 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Neonatal and Adult Cholestasis
  • Alagille syndrome 2
Red NOTCH2 in Hydrocephalus


Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
  • Literature
Phenotypes
  • Hajdu-Cheney syndrome
Green NOTCH2 in Cholestasis


Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • NHS GMS
Phenotypes
  • Alagille syndrome 2
  • Neonatal and Adult Cholestasis
Red NOTCH2 in Ductal plate malformation


Version 1.29

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen, Expert list
Phenotypes
  • Alagille syndrome 2 (610205)
Green NOTCH2 in Familial non syndromic congenital heart disease

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.80

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Alagille syndrome 2 610205
Green NOTCH2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Emory Genetics Laboratory
    • Expert Review Green
    Phenotypes
    • Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500
    • Alagille syndrome 2 610205
    Green NOTCH2 in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.176

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Alagille syndrome 2 610205
    Green NOTCH2 in Fetal anomalies


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HAJDU-CHENEY SYNDROME
    Green NOTCH2 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias
    Green NOTCH2 in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HAJDU-CHENEY SYNDROME 102500
    Amber NOTCH2 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.110
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Hajdu-Cheney syndrome, OMIM:102500
    Red NOTCH2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Alagille syndrome 2, 610205
    • Hajdu-Cheney syndrome, 102500
    Red NOTCH2 in Structural eye disease


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    Phenotypes
    • Hajdu-Cheney syndrome, 102500
    • Alagille syndrome 2, 610205
    Green NOTCH2 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Alagille syndrome 2, 610205
    • Hajdu-Cheney syndrome, 102500