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 - childhood onset


Level 2: Neurology
Version 8.7
Latest signed off version: v8.6 (12 Aug 2026)

Component of the following Super Panels:

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


    Level 2: Ophthalmology
    Version 4.13
    Latest signed off version: v4.12 (12 Aug 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Leukodystrophy, hypomyelinating, 22, OMIM:619328
    Green CLDN11 in Hereditary spastic paraplegia, childhood onset


    Level 2: Neurology
    Version 9.8
    Latest signed off version: v9.7 (12 Aug 2026)

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


    Level 2: Audiology
    Version 6.35
    Latest signed off version: v6.34 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert
    Green CLDN11 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.1
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Leukodystrophy, hypomyelinating, 22, OMIM:619328