Optic Atrophy
Gene: MECR
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Optic atrophy 16, MIM# 620629
PMID: 27817865 - 4/5 families w/ bilallelic variants reported w/ childhood OA.
Appears to have variable expressivity (one family hom for a splice variant has OA, another family with the same genotype does not)
PMID: 31137067 - 1 patient w/ chet missense/PTCs and childhood OACreated: 9 Apr 2020, 5:28 a.m. | Last Modified: 9 Apr 2020, 5:28 a.m.
Panel Version: 0.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Publications
Phenotypes for gene: MECR were changed from Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities to Optic atrophy 16, MIM# 620629
Gene: mecr has been classified as Green List (High Evidence).
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
Phenotypes for gene: MECR were changed from to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Publications for gene: MECR were set to
Mode of inheritance for gene: MECR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: MECR was added gene: MECR was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MECR was set to Unknown