Optic neuropathy
Gene: MECRThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:01 a.m. | Last Modified: 8 Mar 2022, 10:01 a.m.
Panel Version: 2.58
Comment on list classification: New gene added by Zornitza Stark and an additional Green review from Sara Martins. MECR is associated with a relevant phenotype in OMIM and probably associated with a relevant phenotype in Gene2Phenotype. There is enough evidence for this gene to be Green. Currently, it is rated Amber and will be promoted to Green status at the next major review.Created: 13 Jul 2020, 3:05 p.m. | Last Modified: 13 Jul 2020, 3:05 p.m.
Panel Version: 2.11
6 unrelated families, homozygous or compound heterozygous for MECR variants, with optic atrophy and basal ganglia abnormalities. Studies using patient fibroblasts showed that the MECR variants strongly reduced levels of MECR protein and lipoylation compared to controls. It also showed that MECR variants affect, at variable levels, mitochondrial respiratory chain and electron transport system activities (Heimer 2016).Created: 23 Jun 2020, 1:47 p.m. | Last Modified: 23 Jun 2020, 1:47 p.m.
Panel Version: 2.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Publications
At least 6 families reported, optic atrophy is a consistent feature.
Sources: Expert listCreated: 16 Apr 2020, 12:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag for-review was removed from gene: MECR.
Source Expert Review Green was added to MECR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: mecr has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: MECR.
Phenotypes for gene: MECR were changed from Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282
gene: MECR was added gene: MECR was added to Optic neuropathy. Sources: Expert list Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MECR were set to 27817865; 31137067 Phenotypes for gene: MECR were set to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities Review for gene: MECR was set to GREEN gene: MECR was marked as current diagnostic