Bilateral microtia

Gene: POLR1C

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

• PMID:11013442
• 12391170
• 21131976
• 26151409
• 9653160

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

• 21131976,

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.