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Fetal anomalies

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 2 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 12 Dec 2025, 3:10 p.m. | Last Modified: 12 Dec 2025, 3:10 p.m.
Panel Version: 6.120
Created: 12 Dec 2025, 3:10 p.m.
Last Modified: 12 Dec 2025, 3:10 p.m.
Panel version: 6.120

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: OMIM phenotype (?Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269) accessed on 16 Dec 2025
Created: 2 Jan 2026, 11 a.m. | Last Modified: 2 Jan 2026, 11 a.m.
Panel Version: 6.130
Another fetal case - PMID: 40130161 (2025) - Homozygous c.2768T>G, p.(Leu923*) was detected in a fetus from a Slovenian family who presented with short bones of extremities (7 percentile), fibular aplasia, bilateral radial aplasia, tibial aplasia, hypoplastic nasal bone, delayed ossification, and congenital contractures.
Created: 16 Dec 2025, 1:16 p.m. | Last Modified: 16 Dec 2025, 1:16 p.m.
Panel Version: 6.121
New gene added to this panel. There is sufficient evidence to make this gene Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 2 Jan 2026, 11 a.m.
Panel version: 6.121

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Green List (high evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Homozygous synonymous variant affecting splicing in four sibs with skeletal dysplasia, insulin-dependent diabetes, hearing loss, obesity, and intellectual disability (32101163). Homozygous frameshift p.(Leu924Serfs*) in a fetus with a lethal skeletal dysplasia and fetal hydrops (33778321). Homozygous c.354+2T>G in one patient and homozygous p.Cys38Phe in a second patient with severe short limbs, short stature, metaphyseal dysplasia, dysmorphic facies, lax joints, dentinogenesis imperfecta (40119123). MIA3 KO mice show neonatal lethality due to insufficient bone mineralization. Skeletal phenotype seen in dogs with homozygous splice variant (34680893). Not currently green on any panel; red on skeletal dysplasia.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Odontochondrodysplasia-2 with hearing loss and diabetes

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ?Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269
OMIM
613455
Clinvar variants
Variants in MIA3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jan 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MIA3 were changed from Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269 to ?Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269

16 Dec 2025, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MIA3 were set to 32101163; 40119123; 33778321

16 Dec 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_promote_green was removed from gene: MIA3. Tag Q3_25_NHS_review was removed from gene: MIA3.

16 Dec 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MIA3 were changed from Ondontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269 to Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269

12 Dec 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to MIA3. Source NHS GMS was added to MIA3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

8 Sep 2025, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_NHS_review tag was added to gene: MIA3.

8 Sep 2025, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MIA3 were changed from Odontochondrodysplasia-2 with hearing loss and diabetes to Ondontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269

8 Sep 2025, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_promote_green tag was added to gene: MIA3.

5 Sep 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: MIA3 was added gene: MIA3 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: MIA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MIA3 were set to 32101163; 40119123; 33778321 Phenotypes for gene: MIA3 were set to Odontochondrodysplasia-2 with hearing loss and diabetes