IUGR and IGF abnormalities
Gene: PCNT
PCNT (pericentrin)
EnsemblGeneIds (GRCh38): ENSG00000160299
EnsemblGeneIds (GRCh37): ENSG00000160299
OMIM: 605925, Gene2Phenotype
PCNT is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000160299
EnsemblGeneIds (GRCh37): ENSG00000160299
OMIM: 605925, Gene2Phenotype
PCNT is in 13 panels
2 reviews
Peter Clayton (University of Manchester)
Philip Murray (University of Manchester)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
- OMIM
- 605925
- Clinvar variants
- Variants in PCNT
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Severe insulin resistance and lipodystrophy syndromes
- Limb disorders
- Intellectual disability
- Osteogenesis imperfecta
- Severe microcephaly
- IUGR and IGF abnormalities
- DDG2P
- Cerebral vascular malformations
- Insulin resistance (including lipodystrophy)
- Skeletal dysplasia
- Monogenic short stature
- Fetal anomalies
- Monogenic diabetes
History Filter Activity
24 Apr 2024, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PCNT were changed from Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
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