Osteogenesis imperfecta
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
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Remove from panelCreated: 27 Nov 2015, 3:04 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Disproportionate Short Stature
- Tags
- 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
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: PCNT.
14 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PCNT was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory