Mitochondrial disorders
Gene: MECREnsemblGeneIds (GRCh38): ENSG00000116353
EnsemblGeneIds (GRCh37): ENSG00000116353
OMIM: 608205, Gene2Phenotype
MECR is in 12 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 6 variants reported in unrelated families.Created: 16 Apr 2019, 2:41 p.m.
Zornitza Stark (Australian Genomics)
Seven patients from five unrelated families reported with bi-allelic variants in this gene, which encodes a mitochondrial enzyme.Created: 30 Aug 2018, 6:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM#617282
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
- OMIM
- 608205
- Clinvar variants
- Variants in MECR
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Fetal anomalies
- Optic neuropathy
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: mecr has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: MECR were changed from to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: MECR were set to
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: MECR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)MECR was added to Mitochondrial disorders panel. Sources: Victorian Clinical Genetics Services
Created
Sarah Leigh (Genomics England Curator)MECR was created by Sarah Leigh