Skeletal dysplasia
Gene: PCNTEnsemblGeneIds (GRCh38): ENSG00000160299
EnsemblGeneIds (GRCh37): ENSG00000160299
OMIM: 605925, Gene2Phenotype
PCNT is in 13 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Slender bone dysplasia gp of SD, gene previously PCNT2. Several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type II 210720
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PCNT; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
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.
Ana Beleza (Bristol Regional Genetics Service)
Tier 2Created: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
- OMIM
- 605925
- Clinvar variants
- Variants in PCNT
- Penetrance
- Complete
- Panels with this gene
-
- Limb disorders
- DDG2P
- Monogenic diabetes
- Lipodystrophy - childhood onset
- IUGR and IGF abnormalities
- Insulin resistance (including lipodystrophy)
- Skeletal dysplasia
- Fetal anomalies
- Severe microcephaly
- Monogenic short stature
- Osteogenesis imperfecta
- Cerebral vascular malformations
- Intellectual disability
History Filter Activity
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
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Microcephalic osteodysplastic primordial dwarfism, type II 210720 for gene: PCNT
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to PCNT. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II 210720
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for PCNT was changed to BIALLELIC, autosomal or pseudoautosomal
Upload gene information
Sarah Leigh (Genomics England Curator)PCNT was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Sarah Leigh (Genomics England Curator)PCNT was added to Unexplained skeletal dysplasiapanel. Sources:
Created
Sarah Leigh (Genomics England Curator)PCNT was created by sleigh