Mitochondrial disease
Gene: TIMM50

TIMM50 (translocase of inner mitochondrial membrane 50)
EnsemblGeneIds (GRCh38): ENSG00000105197
EnsemblGeneIds (GRCh37): ENSG00000105197
OMIM: 607381, Gene2Phenotype
TIMM50 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

3-Methylglutaconic aciduria type IX (MGCA9) is an autosomal recessive disorder characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria, suggestive of a mitochondrial defect. At least 5 unrelated families reported.
Created: 31 Mar 2022, 7:29 p.m. | Last Modified: 31 Mar 2022, 7:29 p.m.

Panel Version: 0.755

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-methylglutaconic aciduria, type IX, MIM# 617698

Publications

Created: 31 Mar 2022, 7:29 p.m.
Last Modified: 31 Mar 2022, 7:29 p.m.
Panel version: 0.755

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

3-methylglutaconic aciduria, type IX, MIM# 617698

OMIM

607381

Clinvar variants

Variants in TIMM50

Penetrance

None

Publications

Panels with this gene