Inherited white matter disorders
Gene: POLR1C

POLR1C (RNA polymerase I subunit C)
EnsemblGeneIds (GRCh38): ENSG00000171453
EnsemblGeneIds (GRCh37): ENSG00000171453
OMIM: 610060, Gene2Phenotype
POLR1C is in 11 panels

2 reviews

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_599

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Aug 2016, 2:36 p.m.

Panel version: 0.106

Sarah Leigh (Genomics England Curator)

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.

Created: 6 Jul 2016, 1:05 p.m.

Panel version: 0.48

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list
Radboud University Medical Center, Nijmegen

Phenotypes

Leukodystrophy, hypomyelinating, 11 616494

OMIM

610060

Clinvar variants

Variants in POLR1C

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

6 Jul 2016, Gel status: 4