Monogenic Diabetes

Gene: MIA3

Green List (high evidence)

MIA3 (MIA family member 3, ER export factor)
EnsemblGeneIds (GRCh38): ENSG00000154305
EnsemblGeneIds (GRCh37): ENSG00000154305
OMIM: 613455, Gene2Phenotype
MIA3 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services)

Green List (high evidence)

Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability. Three unrelated families reported, including four affected siblings. Mouse model has absence of bone mineralization.
Sources: Literature
Created: 17 Oct 2025, 2:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269
OMIM
613455
Clinvar variants
Variants in MIA3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Oct 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services)

Gene: mia3 has been classified as Green List (High Evidence).

17 Oct 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services)

Gene: mia3 has been classified as Green List (High Evidence).

17 Oct 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services)

gene: MIA3 was added gene: MIA3 was added to Monogenic Diabetes. Sources: Literature Mode of inheritance for gene: MIA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MIA3 were set to 32101163; 33778321; 40948380; 40119123 Phenotypes for gene: MIA3 were set to Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269 Review for gene: MIA3 was set to GREEN