TMLHE

trimethyllysine hydroxylase, epsilon
OMIM: 300777, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red TMLHE in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Red TMLHE 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
    • Victorian Clinical Genetics Services
    • Expert Review Red
    Phenotypes
    • {Autism, susceptibility to, X-linked 6}, 300872 (includes Intellectual disability)