Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Hearing loss

Gene: POLR1C

Red List (low evidence)

POLR1C (RNA polymerase I subunit C)
EnsemblGeneIds (GRCh38): ENSG00000171453
EnsemblGeneIds (GRCh37): ENSG00000171453
OMIM: 610060, Gene2Phenotype
POLR1C is in 11 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#248390:Treacher Collins syndrome 3[Zygomatic complex hypoplasiaMandibular hypoplasia; Microtia Hearing loss, conductive; Downslanting palpebral fissuresColoboma, lower eyelid; Cleft palate; Caused by mutation in the polymerase I, RNA, subunit C gene (POLR1C,)]; #616494:Leukodystrophy, hypomyelinating, 11[Head titubations (in some patients); Myopia (in some patients); Dental abnormalities (in some patients); Delayed psychomotor developmentIntellectual disabilityTremorLoss or lack of independent ambulation (in some patients)Tremor (in some patients)Ataxia (in some patients)Spasticity (in some patients)Brain imaging shows hypomyelinationLeukodystrophyThin corpus callosumCerebellar atrophy (in some patients)]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

POLR1C was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert