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 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.3
Latest signed off version: v4.0 (1 May 2024)

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 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.38
    Latest signed off version: v4.37 (1 May 2024)

    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