Inherited white matter disordersGene: POLR1A
Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:03 p.m.
Please note this recent report of siblings with a severe neurodegenerative phenotype including leukodystrophy and bi-allelic variants in this gene. Given that POLR1C, POLR3A and POLR3B are all associated with leukodystrophy, probably merits Amber for now.
Created: 24 Jul 2018, 5:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Gene: polr1a has been classified as Red List (Low Evidence).
POLR1A was added to Inherited white matter disorders panel. Sources: Expert list
POLR1A was created by Zornitza Stark