This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
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
1 review
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, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type II 210720
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Microcephalic osteodysplastic primordial dwarfism, type II 210720
- OMIM
- 605925
- Clinvar variants
- Variants in PCNT
- Penetrance
- None
- Panels with this gene
-
- Osteogenesis imperfecta
- Intellectual disability
- Lipodystrophy - childhood onset
- IUGR and IGF abnormalities
- Severe microcephaly
- Monogenic diabetes
- Insulin resistance (including lipodystrophy)
- Limb disorders
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Monogenic short stature
- Cerebral vascular malformations
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: PCNT was added gene: PCNT was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II 210720