PanelApp
  1. Genes and Genomic Entities
  2. JAG1

JAG1

jagged 1
OMIM: 601920, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Green JAG1 in Alagille syndrome


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alagille syndrome, MIM# 1 118450

Green JAG1 in Eye Anterior Segment Abnormalities


Level 2: Ophthalmological disorders
Version 1.15

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Alagille syndrome 118450

Amber JAG1 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.100

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • thoracic aortic aneurysm MONDO:0005396

Green JAG1 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


Level 2: Renal and urinary tract disorders
Version 0.159

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel

    		•  2 reviews Unknown
    Sources
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green JAG1 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.474

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Alagille syndrome 1 #118450

    Green JAG1 in Cholestasis


    Level 2: Gastroenterological disorders
    Version 1.5

    Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Alagille syndrome, MIM#118450

    Amber JAG1 in Craniosynostosis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.72

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Alagille syndrome 1, MIM# 118450

    Green JAG1 in Mendeliome


    Version 1.3512

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Alagille syndrome 1, MIM# 118450
    • Charcot-Marie-Tooth disease, axonal, type 2HH, MIM# 619574

    Green JAG1 in Renal Tubulointerstitial Disease


    Level 2: Renal and urinary tract disorders
    Version 1.7

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • JAG1-related autosomal dominant tubulointerstitial kidney disease
    • Alagille syndrome, MONDO:0007318

    Red JAG1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Alagille syndrome 1, MIM#118450

    Green JAG1 in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.68

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Peripheral neuropathy

    Green JAG1 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.234

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  2 reviews Unknown
    Sources
    • Expert Review Green
    • Literature
    • RetNet
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Amber JAG1 in Vitreoretinopathy


    Level 2: Ophthalmological disorders
    Version 1.9

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Familial exudative vitreoretinopathy

    Green JAG1 in Stroke


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.28

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Alagille syndrome 1, MIM# 118450

    Green JAG1 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
    • Alagille syndrome

    Green JAG1 in Liver Failure_Paediatric


    Level 2: Gastroenterological disorders
    Version 1.30

    Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Alagille syndrome, MIM# 118450

    Green JAG1 in Congenital hypothyroidism

    Level 3: Thyroid disorders
    Level 2: Endocrine disorders
    Version 0.53

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Expert Review
    Phenotypes
    • Alagille syndrome, MIM#118450

    Green JAG1 in Fetal anomalies


    Version 1.465

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Alagille syndrome 1, MIM#118450

    Red JAG1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Alagille syndrome, MIM# 1 118450