Skeletal dysplasia

Gene: POLR1C

Green List (high evidence)

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 Lester

Created: 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

I don't know

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: green

Created: 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 248390

Created: 29 Jul 2016, 12:52 p.m.

Comment on phenotypes: Variants also reported in Leukodystrophy, hypomyelinating, 11 616494

Created: 29 Jul 2016, 12:50 p.m.

Green List (high evidence)

Tier 3

Created: 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