MIA3

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green MIA3 in Mendeliome


Version 1.3512

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269

Green MIA3 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.238

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269

Green MIA3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.346

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269

Green MIA3 in Monogenic Diabetes


Level 2: Endocrine disorders
Version 0.152

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269

    Green MIA3 in Fetal anomalies


    Version 1.465

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269