Dystonia - complex

Gene: MECR

Green List (high evidence)

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

2 reviews

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.
Created: 28 Apr 2021, 11:53 p.m. | Last Modified: 28 Apr 2021, 11:53 p.m.
Panel Version: 0.172

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 27817865 - 4/5 families w/ bilallelic variants reported w/ dystonia with variable features

PMID: 31137067 - 1 patient w/ chet missense/PTCs and dystonia with variable features
Sources: Expert Review
Created: 9 Apr 2020, 6:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
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

History Filter Activity

28 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MECR were changed from Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM#617282 to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282; MONDO:0015003

28 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MECR were set to PMID: 27817865; 31137067

9 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mecr has been classified as Green List (High Evidence).

9 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MECR were changed from Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM#617282

9 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mecr has been classified as Green List (High Evidence).

9 Apr 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: MECR was added gene: MECR was added to Dystonia - complex. Sources: Expert Review Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MECR were set to PMID: 27817865; 31137067 Phenotypes for gene: MECR were set to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities Review for gene: MECR was set to GREEN