KLHL9

kelch like family member 9
OMIM: 611201, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red KLHL9 in Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.33
Latest signed off version: v1.32 (16 Dec 2021)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • distal myopathy (no OMIM number)

    Red KLHL9 in Neuromuscular disorders


    Version 5.177
    Latest signed off version: v5.172 (16 Dec 2021)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    Phenotypes
    • distal myopathy (no OMIM number)

    Red KLHL9 in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.33
    Latest signed off version: v2.32 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • London South GLH
    Phenotypes
    • Early onset distal myopathy
    • Nemaline myopathy