CLDN11

claudin 11
OMIM: 601326, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green CLDN11 in White matter disorders and cerebral calcification - narrow panel


Version 3.35
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Leukodystrophy, hypomyelinating, 22, OMIM:619328
    Amber CLDN11 in Albinism or congenital nystagmus


    Version 3.5
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leukodystrophy, hypomyelinating, 22, OMIM:619328
    Tags
    • Q4_23_promote_green
    Amber CLDN11 in Childhood onset hereditary spastic paraplegia


    Version 4.43
    Latest signed off version: v4.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leukodystrophy, hypomyelinating, 22, OMIM:619328
    Tags
    • Q4_23_promote_green
    Red CLDN11 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.38
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert
    Amber CLDN11 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leukodystrophy, hypomyelinating, 22, OMIM:619328
    Tags
    • Q4_23_promote_green