Structural basal ganglia disorders
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
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least 6 variants reported in at least 5 casesCreated: 6 Mar 2017, 3:12 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
- OMIM
- 608205
- Clinvar variants
- Variants in MECR
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- DDG2P
- Mitochondrial disorders
- Fetal anomalies
- Structural basal ganglia disorders
- Neurodegenerative disorders, adult onset
- Possible mitochondrial disorder, nuclear genes
- Early onset dystonia
- Optic neuropathy
- Likely inborn error of metabolism
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
History Filter Activity
16 Mar 2017, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
6 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).
6 Mar 2017, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for MECR were set to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
6 Mar 2017, Gel status: 4
Set publications
Sarah Leigh (Genomics England Curator)Publications for MECR were set to 27817865
6 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).
1 Mar 2017, Gel status: 0
Created
Manju Kurian (UCL-Institute of Child Health)MECR was created by Manju
1 Mar 2017, Gel status: 0
Added New Source
Manju Kurian (UCL-Institute of Child Health)MECR was added to Structural basal ganglia disorderspanel. Sources: Literature