1. Genes and Genomic Entities
  2. KLHL40

KLHL40

kelch like family member 40
OMIM: 615340, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
No list KLHL40 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.95

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Nemaline myopathy 8, autosomal recessive, MIM# 615348
Green KLHL40 in Arthrogryposis


Level 2: Neurology
Version 10.5
Latest signed off version: v10.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Nemaline myopathy 8, autosomal recessive, 615348
Green KLHL40 in Congenital myopathy


Level 2: Neurology
Version 7.14
Latest signed off version: v7.0 (6 May 2026)

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 8, autosomal recessive, OMIM:615348
    Green KLHL40 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.10
    Latest signed off version: v7.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE
    Green KLHL40 in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE 615348
    Red KLHL40 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Nemaline myopathy 8, autosomal recessive, 615348