Deafness and congenital structural abnormalities
Gene: POLR1CComment 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.
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
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
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.
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.
This gene has been classified as Green List (High Evidence).
Publications for POLR1C were set to 11013442; 12391170; 21131976; 26151409; 9653160
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
POLR1C was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green
POLR1C was created by sleigh