Dystonia, chorea or related movement disorder, childhood onset
Gene: MECR

MECR (mitochondrial trans-2-enoyl-CoA reductase)
EnsemblGeneIds (GRCh38): ENSG00000116353
EnsemblGeneIds (GRCh37): ENSG00000116353
OMIM: 608205, Gene2Phenotype
MECR is in 12 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Removed from adult onset panel
Created: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.

Panel Version: 0.9

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PanelApp
Expert Review Green
London North GLH

Phenotypes

Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282

OMIM

608205

Clinvar variants

Variants in MECR

Penetrance

None

Publications

27817865

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to MECR. Mode of inheritance for gene MECR was changed from 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

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: MECR was added gene: MECR was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: MECR was set to

Dystonia, chorea or related movement disorder, childhood onset Gene: MECR