Growth failure
Gene: PCNTEnsemblGeneIds (GRCh38): ENSG00000160299
EnsemblGeneIds (GRCh37): ENSG00000160299
OMIM: 605925, Gene2Phenotype
PCNT is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association, more than 20 unrelated families reported. Severe growth failure.Created: 20 Aug 2021, 2:30 a.m. | Last Modified: 20 Aug 2021, 2:30 a.m.
Panel Version: 0.243
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720; MONDO:0008872
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720
- MONDO:0008872
- OMIM
- 605925
- Clinvar variants
- Variants in PCNT
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Microcephaly
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Skeletal Dysplasia_Fetal
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Microcephalic Primordial Dwarfism and Slender bone dysplasias
- Mendeliome
- Prepair 500+
- Cerebral vascular malformations
- Callosome
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pcnt has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PCNT were changed from Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance, 210720; MOPDII to Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720; MONDO:0008872
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PCNT were set to 18157127; 18174396
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pcnt has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PCNT was added gene: PCNT was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Red 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 Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance, 210720; MOPDII