Deafness and congenital structural abnormalities
Gene: POLR1DEnsemblGeneIds (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 panelCreated: 19 Sep 2016, 10:05 a.m.
Jun Shen (Harvard Medical School)
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)
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
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for POLR1D were set to 21131976;24603435; 8955128
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
Added New Source
Sarah Leigh (Genomics England Curator)POLR1D was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green
Created
Sarah Leigh (Genomics England Curator)POLR1D was created by sleigh