ERGIC1

endoplasmic reticulum-golgi intermediate compartment 1
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green ERGIC1 in Arthrogryposis


Level 2: Neurology
Version 10.23
Latest signed off version: v10.16 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100
Tags
  • gene-checked
Green ERGIC1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.7
Latest signed off version: v8.0 (12 Aug 2026)

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