Deafness and congenital structural abnormalities

Gene: POLR1D

Green List (high evidence)

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

4 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. Seven variants reported. Two expert green reviews in Bilateral Microtia panel
Created: 19 Sep 2016, 10:05 a.m.

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

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

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

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 613717
  • Treacher Collins syndorme which is highly variable
  • Treacher Collins syndrome 2
OMIM
613715
Clinvar variants
Variants in POLR1D
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Oct 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for POLR1D were set to 21131976;24603435; 8955128

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

POLR1D was added to Deafness and congenital structural abnormalitiespanel. Source: Emory Genetics Laboratory POLR1D was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services POLR1D was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen POLR1D was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

POLR1D was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

POLR1D was created by sleigh