JAG1

jagged 1
OMIM: 601920, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels
Red JAG1 in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.11

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • Familial thoracic aortic aneurysm and aortic dissection
Green JAG1 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
  • Other
Phenotypes
  • Alagille syndrome 1, OMIM:118450
  • Neonatal and Adult Cholestasis
Red JAG1 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.16
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert list
Phenotypes
  • Alagille syndrome 1, OMIM:118450
  • Moyamoya disease
Green JAG1 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
  • NHS GMS
  • Other
Phenotypes
  • Alagille syndrome 1, OMIM:118450
  • Neonatal and Adult Cholestasis
Red JAG1 in Ductal plate malformation


Version 1.29

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Alagille syndrome 1, OMIM:118450
Green JAG1 in Familial non syndromic congenital heart disease

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.86

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alagille syndrome 1, OMIM:118450
  • Tetralogy of Fallot, OMIM:187500
  • Deafness, congenital heart defects, and posterior embryotoxon, OMIM:617992
Green JAG1 in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.177

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 1, OMIM:118450
    Green JAG1 in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ALAGILLE SYNDROME
    Green JAG1 in Rare syndromic craniosynostosis or isolated multisuture synostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Alagille syndrome 1, OMIM:118450
    Green JAG1 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ALAGILLE SYNDROME 279357
    Amber JAG1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.478

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Vocal cord palsy
    • Peripheral neuropathy
    Tags
    • watchlist
    Red JAG1 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.41
    Latest signed off version: v4.39 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • ?Deafness, congenital heart defects, and posterior embryotoxon, OMIM:617992
    Red JAG1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.21
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Alagille syndrome 1, OMIM:118450
    Amber JAG1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 5.6
    Latest signed off version: v5.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • RetNet
    Phenotypes
    • Alagille syndrome 1, OMIM:118450
    • exudative vitreoretinopathy, MONDO:0019516
    Tags
    • Q1_24_promote_green
    • Q1_24_NHS_review
    Red JAG1 in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert review red
    • Literature
    Phenotypes
    • Congenital or cystic renal disease
    • Alagille syndrome 1
    • MIM 118450
    Amber JAG1 in Hereditary neuropathy or pain disorder


    Version 4.11
    Latest signed off version: v4.0 (1 May 2024)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Vocal cord palsy
    • Peripheral neuropathy
    Tags
    • watchlist
    Green JAG1 in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Alagille syndrome 1, 118450
    • ?Deafness, congenital heart defects, and posterior embryotoxon, 617992
    • Tetralogy of Fallot, 187500