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Limb disorders

Gene: PCNT

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.
Created: 12 Jul 2016, 10:38 a.m.
Created: 12 Jul 2016, 10:38 a.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.554

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 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

Created: 17 Jun 2016, 8:06 a.m.

Panel version: Imported from Unexplained skeletal dysplasia panel version 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
OMIM
605925
Clinvar variants
Variants in PCNT
Penetrance
None
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 to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

5 Apr 2018, Gel status: 4

Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to PCNT. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PCNT was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

PCNT was created by Ellen McDonagh