Inherited white matter disorders
Gene: POLR1C
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 6 Jul 2016, 1:07 p.m.
Comment on list classification: Provisionally accepted by UKGTN for Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel (Ian Berry)Created: 6 Jul 2016, 1:05 p.m.
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
Phenotypes for POLR1C were set to Leukodystrophy, hypomyelinating, 11 616494
Publications for POLR1C were set to 25655951; 26151409;
Mode of inheritance for POLR1C was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
POLR1C was added to Inherited white matter disorderspanel. Sources: Expert list
POLR1C was created by ellenmcdonagh
POLR1C was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen