KLHL41

kelch like family member 41
OMIM: 607701, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green KLHL41 in Arthrogryposis


Level 2: Neurology
Version 9.24
Latest signed off version: v9.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nemaline myopathy 9, 615731 (3)
Green KLHL41 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Nemaline myopathy 9, OMIM:615731
    Green KLHL41 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Nemaline myopathy 615731