Inherited white matter disorders

Gene: POLR1A

Red List (low evidence)

POLR1A (RNA polymerase I subunit A)
EnsemblGeneIds (GRCh38): ENSG00000068654
EnsemblGeneIds (GRCh37): ENSG00000068654
OMIM: 616404, Gene2Phenotype
POLR1A is in 9 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:03 p.m.

Zornitza Stark (Australian Genomics)

I don't know

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

History Filter Activity

19 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: polr1a has been classified as Red List (Low Evidence).

24 Jul 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

POLR1A was added to Inherited white matter disorders panel. Sources: Expert list

24 Jul 2018, Gel status: 0


Zornitza Stark (Australian Genomics)

POLR1A was created by Zornitza Stark