Possible mitochondrial disorder - nuclear genes
Gene: MECREnsemblGeneIds (GRCh38): ENSG00000116353
EnsemblGeneIds (GRCh37): ENSG00000116353
OMIM: 608205, Gene2Phenotype
MECR is in 12 panels
2 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282
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
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282
- 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
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Fetal anomalies
- DDG2P
- Optic neuropathy
- Mitochondrial disorders
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: MECR was added gene: MECR was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MECR were set to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282