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Hearing loss

Gene: POLR1D

Red List (low evidence)

POLR1D (RNA polymerase I subunit D)
EnsemblGeneIds (GRCh38): ENSG00000186184
EnsemblGeneIds (GRCh37): ENSG00000186184
OMIM: 613715, Gene2Phenotype
POLR1D is in 8 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#613717:Treacher Collins syndrome 2[Zygomatic complex hypoplasiaMandibular hypoplasia; Microtia Hearing loss, conductive; Downslanting palpebral fissuresColoboma, lower eyelid; Choanal stenosisChoanal atresia; Cleft palate; Motor development delayed (in some patients)Speech development delayed (in some patients); Caused by mutation in the polymerase I, RNA, subunit D gene (POLR1D,)]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

POLR1D was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert