Deafness and congenital structural abnormalities
Gene: POLR1CEnsemblGeneIds (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 616494Created: 19 Sep 2016, 9:44 a.m.
Jun Shen (Harvard Medical School)
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 correctCreated: 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
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for POLR1C were set to 11013442; 12391170; 21131976; 26151409; 9653160
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
Added New Source
Sarah Leigh (Genomics England Curator)POLR1C was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green
Created
Sarah Leigh (Genomics England Curator)POLR1C was created by sleigh