ERGIC3

ERGIC and golgi 3
OMIM: 616971, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber ERGIC3 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.524
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Intellectual disability, MONDO:0001071
    Tags
    • watchlist