1. Genes and Genomic Entities
  2. KLHL9

KLHL9

kelch like family member 9
OMIM: 611201, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red KLHL9 in Distal myopathies


Level 2: Neurology
Version 6.16
Latest signed off version: v6.4 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • distal myopathy (no OMIM number)
    Red KLHL9 in Congenital myopathy


    Level 2: Neurology
    Version 6.45
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

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