Mitochondrial disease
Gene: MECR

MECR (mitochondrial trans-2-enoyl-CoA reductase)
EnsemblGeneIds (GRCh38): ENSG00000116353
EnsemblGeneIds (GRCh37): ENSG00000116353
OMIM: 608205, Gene2Phenotype
MECR is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities is an autosomal recessive neurologic disorder characterized by onset of involuntary movements in the first decade of life. Optic atrophy develops around the same time or slightly later. Severity is variable, and some patients lose independent ambulation. Brain imaging shows abnormalities in the basal ganglia. Cognition appears to be unaffected. 7 unrelated families reported.

The MECR gene encodes the last step of mitochondrial fatty acid synthesis.
Created: 28 Apr 2021, 11:56 p.m. | Last Modified: 28 Apr 2021, 11:56 p.m.

Panel Version: 0.605

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282; MONDO:0015003; Optic atrophy 16, MIM# 620629

Publications

Created: 28 Apr 2021, 11:56 p.m.
Last Modified: 28 Apr 2021, 11:56 p.m.
Panel version: 0.893

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282
MONDO:0015003

OMIM

608205

Clinvar variants

Variants in MECR

Penetrance

None

Publications

Panels with this gene