RAB40AL

RAB40A like
OMIM: 300405, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red RAB40AL in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0 (22 Mar 2023)

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
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Mental retardation, X-linked, syndromic, Martin-Probst type, 300519