1. Genes and Genomic Entities
  2. KLHL15

KLHL15

kelch like family member 15
OMIM: 300980, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red KLHL15 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • INTELLECTUAL DISABILITY
    Amber KLHL15 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Expert Review Amber
    Phenotypes
    • Mental retardation, X-linked 103, 300982
    • MRX103
    • Intellectual disability
    Tags
    • deletions