CLDN1

claudin 1
OMIM: 603718, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CLDN1 in Cholestasis


Level 2: Gastroenterological disorders
Version 0.240

Component of the following Super Panels:

  • Liverome Superpanel
  • review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green CLDN1 in Ichthyosis


    Level 2: Dermatological disorders
    Version 1.11

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626

    Green CLDN1 in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626

    Green CLDN1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)

    Red CLDN1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis

    Green CLDN1 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)

    Red CLDN1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis