PanelApp (test)
  1. Genes and Genomic Entities
  2. EXOC2

EXOC2

exocyst complex component 2
OMIM: 615329, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber EXOC2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, MIM# 619306
  • Global developmental delay
  • Intellectual disability
  • Abnormality of the face
  • Abnormality of brain morphology

Amber EXOC2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia, MIM# 619306
  • Global developmental delay
  • Intellectual disability
  • Abnormality of the face
  • Abnormality of brain morphology