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  2. Likely inborn error of metabolism
  3. MECR
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Likely inborn error of metabolism

Gene: MECR

Green List (high evidence)
MECR (mitochondrial trans-2-enoyl-CoA reductase)
EnsemblGeneIds (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.
Created: 16 Apr 2019, 2:41 p.m.

Panel version: Imported from Mitochondrial disorders panel version 1.172

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Created: 30 Aug 2018, 6:24 a.m.

Panel version: Imported from Mitochondrial disorders panel version 1.67

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to MECR. Mode of inheritance for gene MECR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 for gene: MECR Publications for gene MECR were changed from to 27817865 Rating Changed from Red List (low evidence) to Green List (high evidence)

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: MECR was added gene: MECR was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MECR was set to Unknown