IUGR and IGF abnormalities

Gene: PCNT

Green List (high evidence)

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

2 reviews

Peter Clayton (University of Manchester)

Green List (high evidence)

Philip Murray (University of Manchester)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance
OMIM
605925
Clinvar variants
Variants in PCNT
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

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

14 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

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

23 Oct 2015, Gel status: 0

Created

Philip Murray (University of Manchester)

PCNT was created by PhilMurray

23 Oct 2015, Gel status: 0

Added New Source

Philip Murray (University of Manchester)

PCNT was added to IUGR and IGF abnormalitiespanel. Sources: Literature