This Panel is marked as Internal
Intellectual disability update Jan 2018
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
Eleanor Williams (Genomics England Curator)
Comment on list classification: Associated with Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (MIM: 617282) in OMIM and Childhood-Onset Dystonia and Optic Atrophy in Gene2Phenotype but no evidence found of association with Intellectual Disability in OMIM, Gene2Phenotype or PubMed searches.Created: 28 Feb 2018, 10:07 a.m.
Details
- Sources
-
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
- OMIM
- 608205
- Clinvar variants
- Variants in MECR
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Early onset dystonia
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Fetal anomalies
- DDG2P
- Optic neuropathy
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
History Filter Activity
28 Feb 2018, Gel status: 1
Gene classified by Genomics England curator
Eleanor Williams (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
18 Dec 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)MECR was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber
18 Dec 2017, Gel status: 2
Created
Ellen McDonagh (Genomics England Curator)MECR was created by Ellen McDonagh