Insulin resistance (including lipodystrophy)
Gene: PCNT

PCNT (pericentrin)
EnsemblGeneIds (GRCh38): ENSG00000160299
EnsemblGeneIds (GRCh37): ENSG00000160299
OMIM: 605925, Gene2Phenotype
PCNT is in 13 panels

3 reviews

David Savage (IMS MRL, Uni. Cambridge)

Green List (high evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Robert Semple (University of Cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

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 phenotype
Created: 11 Aug 2016, 2:07 p.m.

Created: 11 Aug 2016, 2:07 p.m.

Panel version: 0.75

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen

Phenotypes

Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
Insulin resistance, HP:0000855

OMIM

605925

Clinvar variants

Variants in PCNT

Penetrance

Complete

Publications

21270239

Panels with this gene

History Filter Activity

24 Apr 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

12 Aug 2016, Gel status: 4