Early onset dystonia
Gene: MECR
MECR (mitochondrial trans-2-enoyl-CoA reductase)
EnsemblGeneIds (GRCh38): ENSG00000116353
EnsemblGeneIds (GRCh37): ENSG00000116353
OMIM: 608205, Gene2Phenotype
MECR is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000116353
EnsemblGeneIds (GRCh37): ENSG00000116353
OMIM: 608205, Gene2Phenotype
MECR is in 12 panels
1 review
Sarah Leigh (Genomics England Curator)
Inclusion of this as a green gene on this panel is appropriate, based on the review in the Structural basal ganglia disorders panel and the views of clinical expertCreated: 21 Mar 2017, 1:09 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
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 617282
- OMIM
- 608205
- Clinvar variants
- Variants in MECR
- Penetrance
- Complete
- Panels with this gene
-
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Intellectual disability
- Early onset dystonia
- Optic neuropathy
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Neurodegenerative disorders, adult onset
- DDG2P
- Fetal anomalies
History Filter Activity
21 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
21 Mar 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)MECR was created by sleigh
21 Mar 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)MECR was added to Early onset dystoniapanel. Sources: Expert Review