1. Genes and Genomic Entities
  2. JAM3

JAM3

junctional adhesion molecule 3
OMIM: 606871, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green JAM3 in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.11
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730
    Green JAM3 in Bilateral congenital or childhood onset cataracts


    Level 2: Ophthalmology
    Version 7.6
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730
    • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
    Green JAM3 in Intracerebral calcification disorders

    Level 3: Parenchymal brain disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.36

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730
    Red JAM3 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    		review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730
    Green JAM3 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.138
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Haemorrhagic destruction of the brain, subependymal calcification, and cataracts, OMIM:613730
    Green JAM3 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS 613730
    Green JAM3 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730
    • HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS
    Red JAM3 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    Phenotypes
    • Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730