Deafness and congenital structural abnormalities
Gene: POLR1DComment 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.
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
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
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.
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.
This gene has been classified as Green List (High Evidence).
Publications for POLR1D were set to 21131976;24603435; 8955128
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
POLR1D was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green
POLR1D was created by sleigh