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 9.24
Latest signed off version: v9.0 (30 Apr 2025)

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 6.140
Latest signed off version: v6.0 (30 Apr 2025)

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