Skeletal dysplasia
Gene: PCNT
Slender bone dysplasia gp of SD, gene previously PCNT2. Several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type II 210720
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: PCNT; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 12 Jul 2016, 10:38 a.m.
Tier 2Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type II 210720
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Microcephalic osteodysplastic primordial dwarfism, type II 210720 for gene: PCNT
Source NHS GMS was added to PCNT. 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 PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II 210720
Mode of inheritance for PCNT was changed to BIALLELIC, autosomal or pseudoautosomal
PCNT was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
PCNT was added to Unexplained skeletal dysplasiapanel. Sources:
PCNT was created by sleigh