Limb disorders
Gene: PCNTComment 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
Phenotypes for gene: PCNT were changed from Microcephalic osteodysplastic primordial dwarfism, type II 210720 to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
Ana Beleza: Tier 2
Expert Review Green was added to PCNT. Panel: Limb disorders UKGTN was added to PCNT. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to PCNT. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to PCNT. Panel: Limb disorders Expert list was added to PCNT. Panel: Limb disorders Emory Genetics Laboratory was added to PCNT. Panel: Limb disorders Model of inheritance for gene PCNT was set to BIALLELIC, autosomal or pseudoautosomal
London South East RGC GSTT was added to PCNT. Panel: Limb disorders
PCNT was added to Limb disorders panel. Sources: Viapath
PCNT was created by Ellen McDonagh