1. Genes and Genomic Entities
  2. EXOC2

EXOC2

exocyst complex component 2
OMIM: 615329, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber EXOC2 in Intellectual disability


Level 2: Developmental disorders
Version 9.285
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Global developmental delay
    • Intellectual disability
    • Abnormality of the face
    • Abnormality of brain morphology