Monogenic short stature
Gene: PCNTEnsemblGeneIds (GRCh38): ENSG00000160299
EnsemblGeneIds (GRCh37): ENSG00000160299
OMIM: 605925, Gene2Phenotype
PCNT is in 13 panels
2 reviews
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Seckel syndrome is distinguishable due to marked microcephaly and therefore would be investigated under severe microcephaly R88. Therefore demoted gene from Green to Red.Created: 30 May 2019, 9:49 a.m.
Ivone Leong (Genomics England Curator)
This gene is part of a consensus list for SRS/SRS-like testing provided by Frederic Brioude. Suggested initial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: MOPDII.Created: 14 May 2019, 1:25 p.m.
Phenotypes
MOPDII
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Red
- Phenotypes
-
- Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
- OMIM
- 605925
- Clinvar variants
- Variants in PCNT
- Penetrance
- None
- Publications
- 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
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: PCNT were changed from MOPDII; Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance, 210720 to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: PCNT was added gene: PCNT was added to Monogenic short stature. Sources: Expert Review Red,Expert list Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCNT were set to 18157127; 18174396 Phenotypes for gene: PCNT were set to MOPDII; Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance, 210720