Bilateral microtia
Gene: POLR1C
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for POLR1C were set to Bilateral Microtia; 248390
Publications for POLR1C were set to 21131976
Mode of inheritance for POLR1C was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
POLR1C was added to Bilateral Microtiapanel. Sources: Expert list