CLDN1

claudin 1
OMIM: 603718, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CLDN1 in Cholestasis


Level 2: Gastroenterological disorders
Version 1.5

Component of the following Super Panels:

  • Liverome Superpanel
  • 1 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 Ichthyosis and Porokeratosis


    Level 2: Dermatological disorders
    Version 1.22

    1 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 1.3795

    1 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 0.111

    0 reviews 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

    0 reviews 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 2.15

    1 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 Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

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