1. Genes and Genomic Entities
  2. MIA3

MIA3

MIA family member 3, ER export factor
OMIM: 613455, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red MIA3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.57
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • short stature
    • skeletal dysplasia
    • amelogenesis
    • dentinogenesis imperfecta
    • short stature
    • brachydactyly
    • Platyspondyly
    • insulin-dependent diabetes mellitus
    • sensorineural hearing loss
    • mild intellectual disability