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Skeletal dysplasia v8.30 MIA3 Arina Puzriakova changed review comment from: Comment on phenotypes: OMIM phenotype (Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269) accessed on 16 Dec 2025; to: Comment on phenotypes: OMIM phenotype (?Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269) accessed on 16 Dec 2025
Skeletal dysplasia v8.30 MIA3 Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotype (Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269) accessed on 16 Dec 2025
Skeletal dysplasia v8.30 MIA3 Arina Puzriakova 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
Skeletal dysplasia v8.26 MIA3 Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to promote this gene to green at the next GMS panel update - at least 5 unrelated individuals with biallelic variants in this gene and skeletal dysplasia. Supported by animal models.; to: Comment on list classification: There is sufficient evidence to promote this gene to green at the next GMS panel update - at least 6 unrelated individuals with biallelic variants in this gene and skeletal dysplasia. Supported by animal models.
Skeletal dysplasia v8.26 MIA3 Arina Puzriakova Publications for gene: MIA3 were set to 32101163; 33778321; 40948380; 40119123; 21606205; 34680893
Skeletal dysplasia v8.25 MIA3 Arina Puzriakova edited their review of gene: MIA3: Changed publications to: 32101163, 33778321, 40948380, 40119123, 40130161, 21606205, 34680893
Skeletal dysplasia v8.25 MIA3 Arina Puzriakova changed review comment from: At least four additional cases with biallelic variants in this gene and a severe skeletal dysplasia.

PMID: 33778321 (2021) - Indian family with third degree consanguinity, with a history of three pregnancy terminations due to clinical suspicion of lethal osteogenesis imperfecta and one full‐term pregnancy. The proband was a fetus with a lethal skeletal dysplasia and fetal hydrops. WES revealed a homozygous frameshift (c.2770_2773del, p.(Leu924Serfs*)) in MIA3 (also known as TANGO1). Segregation analysis confirmed both parents are heterozygote carriers.

PMID: 40948380 (2025) - Homozygous c.354+2T>G (p.Val90_Asp118del) was identified in an 3 year old male born to Iranian consanguineous parents. The phenotype consisted of short limbs, short stature, hypotonia at birth and delayed walking.

PMID: 40119123 (2025) - Homozygous c.354+2T>G (p.Val90_Asp118del) in a 5 year old Egyptian male and homozygous c.113G>T (p.Cys38Phe) in a second Egyptian patient aged 1 year and 9 months old with severe short limbs, short stature, metaphyseal dysplasia, dysmorphic facies, lax joints, dentinogenesis imperfecta. Previously reported extra-skeletal manifestations (hearing loss, retinopathy, hydronephrosis, microalbuminuria, diabetes, primary obesity, and intellectual disability) were not observed. Both individuals were born to consanguineous parents.

MIA3 KO mice show neonatal lethality due to insufficient bone mineralization (PMID: 21606205). Skeletal phenotype also seen in dogs with homozygous splice variant (PMID: 34680893).; to: At least four additional cases with biallelic variants in this gene and a severe skeletal dysplasia.

PMID: 33778321 (2021) - Indian family with third degree consanguinity, with a history of three pregnancy terminations due to clinical suspicion of lethal osteogenesis imperfecta and one full‐term pregnancy. The proband was a fetus with a lethal skeletal dysplasia and fetal hydrops. WES revealed a homozygous frameshift c.2770_2773del, p.(Leu924Serfs*) in MIA3 (also known as TANGO1). Segregation analysis confirmed both parents are heterozygote carriers.

PMID: 40948380 (2025) - Homozygous c.354+2T>G (p.Val90_Asp118del) was identified in an 3 year old male born to Iranian consanguineous parents. The phenotype consisted of short limbs, short stature, hypotonia at birth and delayed walking.

PMID: 40119123 (2025) - Homozygous c.354+2T>G p.(Val90_Asp118del) in a 5 year old Egyptian male and homozygous c.113G>T p.(Cys38Phe) in a second Egyptian patient aged 1 year and 9 months old with severe short limbs, short stature, metaphyseal dysplasia, dysmorphic facies, lax joints, dentinogenesis imperfecta. Previously reported extra-skeletal manifestations (hearing loss, retinopathy, hydronephrosis, microalbuminuria, diabetes, primary obesity, and intellectual disability) were not observed. Both individuals were born to consanguineous parents.

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.

MIA3 KO mice show neonatal lethality due to insufficient bone mineralization (PMID: 21606205). Skeletal phenotype also seen in dogs with homozygous splice variant (PMID: 34680893).
Skeletal dysplasia v8.25 MIA3 Arina Puzriakova Publications for gene: MIA3 were set to 32101163
Skeletal dysplasia v8.24 MIA3 Arina Puzriakova Classified gene: MIA3 as Amber List (moderate evidence)
Skeletal dysplasia v8.24 MIA3 Arina Puzriakova Gene: mia3 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v8.23 MIA3 Arina Puzriakova Classified gene: MIA3 as Red List (low evidence)
Skeletal dysplasia v8.23 MIA3 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to green at the next GMS panel update - at least 5 unrelated individuals with biallelic variants in this gene and skeletal dysplasia. Supported by animal models.
Skeletal dysplasia v8.23 MIA3 Arina Puzriakova Gene: mia3 has been classified as Red List (Low Evidence).
Skeletal dysplasia v8.22 MIA3 Arina Puzriakova edited their review of gene: MIA3: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v8.22 MIA3 Arina Puzriakova Tag Q4_25_promote_green tag was added to gene: MIA3.
Skeletal dysplasia v8.22 MIA3 Arina Puzriakova reviewed gene: MIA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32101163, 33778321, 40948380, 40119123, 21606205, 34680893; Phenotypes: Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia v8.22 MIA3 Arina Puzriakova 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
Skeletal dysplasia v8.9 MIA3 Arina Puzriakova Phenotypes for gene: MIA3 were changed from short stature; skeletal dysplasia; amelogenesis; dentinogenesis imperfecta; short stature; brachydactyly; Platyspondyly; insulin-dependent diabetes mellitus; sensorineural hearing loss; mild intellectual disability to Ondontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269
Skeletal dysplasia v2.52 MIA3 Eleanor Williams Classified gene: MIA3 as Red List (low evidence)
Skeletal dysplasia v2.52 MIA3 Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to red based on 1 family reported so far.
Skeletal dysplasia v2.52 MIA3 Eleanor Williams Gene: mia3 has been classified as Red List (Low Evidence).
Skeletal dysplasia v2.51 MIA3 Eleanor Williams Phenotypes for gene: MIA3 were changed from short stature; skeletal dysplasia; amelogenesis to short stature; skeletal dysplasia; amelogenesis; dentinogenesis imperfecta; short stature; brachydactyly; Platyspondyly; insulin-dependent diabetes mellitus; sensorineural hearing loss; mild intellectual disability
Skeletal dysplasia v2.50 MIA3 Eleanor Williams reviewed gene: MIA3: Rating: RED; Mode of pathogenicity: None; Publications: 32101163; Phenotypes: dentinogenesis imperfecta, short stature, brachydactyly, Platyspondyly, insulin-dependent diabetes mellitus, sensorineural hearing loss, mild intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v2.36 MIA3 Aleš Maver changed review comment from: The MIA3 gene is synonymous with TANGO1 in PMID:32101163. This publication reports a synonymous substitution (NM_001324062.1:c.3621A > G) that results in functionally validated exon eight skipping, leading to a truncated TANGO1/MIA3 protein. The variant was identified in four homozygous affected sibs of a consanguineous family, that presented with severe dentinogenesis imperfecta, short stature, various skeletal abnormalities, insulin-dependent diabetes mellitus, sensorineural hearing loss, and mild intellectual disability. Functional studies in HeLa and U2OS cells revealed that the truncated TANGO1/MIA3 protein is dispersed in the ER and its expression in cells with intact endogenous TANGO1/MIA3 impairs cellular collagen I secretion (PMID:32101163).
Sources: Literature; to: The MIA3 gene is synonymous with TANGO1 in PMID:32101163. This publication reports a synonymous substitution (NM_001324062.1:c.3621A > G) that results in functionally validated exon eight skipping, leading to a truncated TANGO1/MIA3 protein. The variant was identified in four homozygous affected sibs of a consanguineous family, that presented with severe dentinogenesis imperfecta, short stature, various skeletal abnormalities, insulin-dependent diabetes mellitus, sensorineural hearing loss, and mild intellectual disability. Functional studies in HeLa and U2OS cells revealed that the truncated TANGO1/MIA3 protein is dispersed in the ER and its expression in cells with intact endogenous TANGO1/MIA3 impairs cellular collagen I secretion (PMID:32101163).
Sources: Literature
Skeletal dysplasia v2.36 MIA3 Aleš Maver changed review comment from: The MIA3 gene is synonymous with TANGO1 in PMID:32101163. This publications reports a synonymous substitution (NM_001324062.1:c.3621A > G) that results in functionally validated exon eight skipping, leading to a truncated TANGO1/MIA3 protein. The variant was identified in four homozygous affected sibs of a consanguineous family, that presented with severe dentinogenesis imperfecta, short stature, various skeletal abnormalities, insulin-dependent diabetes mellitus, sensorineural hearing loss, and mild intellectual disability. Functional studies in HeLa and U2OS cells revealed that the truncated TANGO1/MIA3 protein is dispersed in the ER and its expression in cells with intact endogenous TANGO1/MIA3 impairs cellular collagen I secretion (PMID:32101163).
Sources: Literature; to: The MIA3 gene is synonymous with TANGO1 in PMID:32101163. This publication reports a synonymous substitution (NM_001324062.1:c.3621A > G) that results in functionally validated exon eight skipping, leading to a truncated TANGO1/MIA3 protein. The variant was identified in four homozygous affected sibs of a consanguineous family, that presented with severe dentinogenesis imperfecta, short stature, various skeletal abnormalities, insulin-dependent diabetes mellitus, sensorineural hearing loss, and mild intellectual disability. Functional studies in HeLa and U2OS cells revealed that the truncated TANGO1/MIA3 protein is dispersed in the ER and its expression in cells with intact endogenous TANGO1/MIA3 impairs cellular collagen I secretion (PMID:32101163).
Sources: Literature
Skeletal dysplasia v2.36 MIA3 Aleš Maver gene: MIA3 was added
gene: MIA3 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: MIA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIA3 were set to 32101163
Phenotypes for gene: MIA3 were set to short stature; skeletal dysplasia; amelogenesis
Penetrance for gene: MIA3 were set to unknown
Review for gene: MIA3 was set to RED
Added comment: The MIA3 gene is synonymous with TANGO1 in PMID:32101163. This publications reports a synonymous substitution (NM_001324062.1:c.3621A > G) that results in functionally validated exon eight skipping, leading to a truncated TANGO1/MIA3 protein. The variant was identified in four homozygous affected sibs of a consanguineous family, that presented with severe dentinogenesis imperfecta, short stature, various skeletal abnormalities, insulin-dependent diabetes mellitus, sensorineural hearing loss, and mild intellectual disability. Functional studies in HeLa and U2OS cells revealed that the truncated TANGO1/MIA3 protein is dispersed in the ER and its expression in cells with intact endogenous TANGO1/MIA3 impairs cellular collagen I secretion (PMID:32101163).
Sources: Literature