Inherited white matter disorders

Gene: POLR1C

Green List (high evidence)

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

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.

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

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for POLR1C were set to Leukodystrophy, hypomyelinating, 11 616494

6 Jul 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for POLR1C were set to 25655951; 26151409;

6 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for POLR1C was changed to BIALLELIC, autosomal or pseudoautosomal

6 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2016, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

POLR1C was added to Inherited white matter disorderspanel. Sources: Expert list

19 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

POLR1C was created by ellenmcdonagh

19 May 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

POLR1C was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen