Bilateral microtia
Gene: POLR1D
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.
This gene has been classified as Green List (High Evidence).
Publications for POLR1D were set to 21131976
Phenotypes for POLR1D were set to Bilateral Microtia; 613717
Mode of inheritance for POLR1D was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
POLR1D was added to Bilateral Microtiapanel. Sources: Expert list