ERGIC1

endoplasmic reticulum-golgi intermediate compartment 1
Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green ERGIC1 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100
Tags
  • gene-checked