Skeletal dysplasia
Gene: POLR1C
Dysostoses with predominant craniofacial involvement gp of SD - at least 3 cases. Do you report variants in this gene as part of your current diagnostic practice? - YES for TCS; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Treacher Collins syndrome 3 248390
Variants in this GENE are reported as part of current diagnostic practice
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: POLR1C; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotypes in OMIM and with Treacher Collins syndrome 3 248390 in G2P. At least five variants reported in Treacher Collins syndrome 3 248390Created: 29 Jul 2016, 12:52 p.m.
Comment on phenotypes: Variants also reported in Leukodystrophy, hypomyelinating, 11 616494Created: 29 Jul 2016, 12:50 p.m.
Tier 3Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 11 616494; Treacher Collins syndrome 3 248390
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Treacher Collins syndrome 3 248390 for gene: POLR1C
Source NHS GMS was added to POLR1C. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for POLR1C were set to Treacher Collins syndrome 3 248390
Mode of inheritance for POLR1C was changed to BIALLELIC, autosomal or pseudoautosomal
POLR1C was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
POLR1C was added to Unexplained skeletal dysplasiapanel. Sources:
POLR1C was created by sleigh