Insulin resistance (including lipodystrophy)

Gene: PCNT

Green List (high evidence)

PCNT (pericentrin)
EnsemblGeneIds (GRCh38): ENSG00000160299
EnsemblGeneIds (GRCh37): ENSG00000160299
OMIM: 605925, Gene2Phenotype
PCNT is in 12 panels

3 reviews

David Savage (IMS MRL, Uni. Cambridge)

Green List (high evidence)

Robert Semple (University of Cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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.

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 210720
  • Osteodysplastic Primordial Dwarfism of Majewski Tyoe 2
  • Severe Insulin Resistance
OMIM
605925
Clinvar variants
Variants in PCNT
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 12/08/2016

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Aug 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PCNT were set to 21270239

11 Aug 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II 210720; Osteodysplastic Primordial Dwarfism of Majewski Tyoe 2; Severe Insulin Resistance

11 Aug 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

PCNT was added to Insulin resistance (including lipodystrophy)panel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

12 Oct 2015, Gel status: 0

Added New Source

Robert Semple (University of Cambridge)

PCNT was added to Insulin resistance (including lipodystrophy) panel. Sources: Literature