Deafness and congenital structural abnormalities

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

4 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM and Treacher Collins syndrome 3 248390 is a confirmed Developmental Disorder Gene / G2P. Five variants reported in three unrelated compound heterozygous cases. Two expert green reviews in the Bilateral microtia panel.
Created: 19 Sep 2016, 9:59 a.m.
Comment on phenotypes: Variants also reported in Leukodystrophy, hypomyelinating, 11 616494
Created: 19 Sep 2016, 9:44 a.m.

Jun Shen (Harvard Medical School)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#248390:Treacher Collins syndrome 3 [Zygomatic complex hypoplasia; Mandibular hypoplasia; Microtia Hearing loss, conductive; Downslanting palpebral fissures; Coloboma, lower eyelid; Cleft palate]; #616494:Leukodystrophy, hypomyelinating, 11 [Head titubations (in some patients); Myopia (in some patients); Dental abnormalities (in some patients); Delayed psychomotor development; Intellectual disability; Tremor; Loss or lack of independent ambulation (in some patients); Tremor (in some patients); Ataxia (in some patients); Spasticity (in some patients); Brain imaging shows hypomyelination; Leukodystrophy; Thin corpus callosum; Cerebellar atrophy (in some patients)]

Publications

Maria Bitner-Glindzicz (UCL)

POLR1C is correct
Created: 3 Feb 2016, 3:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Causes Treacher Collins syndrome which is highly variable

Publications

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

Ellen McDonagh (Genomics England Curator)

Reviewers: Please check the name of this gene is correct. 'POL1RC' was originally submitted, and 'POLR1C' determined as the likely HGNC-approved symbol. Article PMC:3912750 uses ''POL1RC' (likely a typo), referencing the article PMID:21131976 which uses 'POLR1C'.
Created: 29 May 2015, 11:55 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 248390
  • Causes Treacher Collins syndrome which is highly variable
  • Treacher Collins syndrome 3
OMIM
610060
Clinvar variants
Variants in POLR1C
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

14 Oct 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for POLR1C were set to 11013442; 12391170; 21131976; 26151409; 9653160

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

POLR1C was added to Deafness and congenital structural abnormalitiespanel. Source: Emory Genetics Laboratory POLR1C was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services POLR1C was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen POLR1C was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

POLR1C was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

POLR1C was created by sleigh