Bilateral microtia
Gene: POLR1D

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

3 reviews

Jun Shen (Harvard Medical School)

Green List (high evidence)

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

Phenotypes
#613717:Treacher Collins syndrome 2 [Zygomatic complex hypoplasia; Mandibular hypoplasia; Microtia Hearing loss, conductive; Downslanting palpebral fissures; Coloboma, lower eyelid; Choanal stenosis; Choanal atresia; Cleft palate; Motor development delayed (in some patients); Speech development delayed (in some patients)]

Publications

Created: 9 Feb 2016, 5:16 p.m.

Panel version: 1.0

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Treacher Collins syndorme which is highly variable

Publications

21131976,

Variants in this GENE are reported as part of current diagnostic practice

Created: 3 Feb 2016, 3:47 p.m.

Panel version: 0.0

Ellen McDonagh (Genomics England Curator)

Reviewers: Please check the name of this gene is correct. 'POL1RD' was originally submitted, and 'POLR1D' determined as the likely HGNC-approved symbol. Article PMC:3912750 uses ''POL1RD' (likely a typo), referencing the article PMID:21131976 which uses 'POLR1D'.
Created: 29 May 2015, 1:02 p.m.

Created: 29 May 2015, 1:02 p.m.

Panel version: 0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert list

Phenotypes

Bilateral Microtia
613717

OMIM

613715

Clinvar variants

Variants in POLR1D

Penetrance

Complete

Publications

21131976

Panels with this gene