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Mendeliome

Gene: MIA3

Amber List (moderate evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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.

Four affected siblings reported, homozygous variant affecting splicing. Mouse model has absence of bone mineralization.
Sources: Expert list
Created: 13 Apr 2021, 10:32 p.m. | Last Modified: 13 Apr 2021, 10:33 p.m.
Panel Version: 0.7147

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 Amber
  • Expert list
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

13 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mia3 has been classified as Amber List (Moderate Evidence).

13 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mia3 has been classified as Amber List (Moderate Evidence).

13 Apr 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MIA3 was added gene: MIA3 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: MIA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MIA3 were set to 32101163; 33778321 Phenotypes for gene: MIA3 were set to Ondontochondrodysplasia 2 with hearing loss and diabetes , MIM#619269 Review for gene: MIA3 was set to AMBER