Insulin resistance (including lipodystrophy)
Gene: PCNT
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported, although Acanthosis nigricans does not appear to be a common feature of this phenotypeCreated: 11 Aug 2016, 2:07 p.m.
Phenotypes for gene: PCNT were changed from Microcephalic osteodysplastic primordial dwarfism, type II 210720; Osteodysplastic Primordial Dwarfism of Majewski Tyoe 2; Severe Insulin Resistance to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720; Insulin resistance, HP:0000855
Promoted to version 1 12/08/2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for PCNT were set to 21270239
Phenotypes for PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II 210720; Osteodysplastic Primordial Dwarfism of Majewski Tyoe 2; Severe Insulin Resistance
PCNT was added to Insulin resistance (including lipodystrophy)panel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
PCNT was added to Insulin resistance (including lipodystrophy) panel. Sources: Literature