1. Genes and Genomic Entities
  2. MIA3

MIA3

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber MIA3 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.33
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • ?Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269
    Tags
    • Q4_25_promote_green
    Green MIA3 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
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • ?Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269