Skeletal Dysplasia_Fetal
Gene: PPIB

PPIB (peptidylprolyl isomerase B)
EnsemblGeneIds (GRCh38): ENSG00000166794
EnsemblGeneIds (GRCh37): ENSG00000166794
OMIM: 123841, Gene2Phenotype
PPIB is in 9 panels

1 review

Naomi Baker (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association with lethal or severe OI phenotype.

PMID: 19781681; reported biallelic loss-of-function variants in two consanguineous families. Multiple skeletal features were observed in fetal radiographs, including fractures of long bones, bowed tibiae, fibula and femora, and beaded ribs.

PMID: 32392875; reported an identical biallelic missense variant in two Taiwanese families. Prenatal imaging showed small and collapsed thoracic cage, bowing of femoral bone, and platyspondyly of spine.
Created: 26 Nov 2021, 5:53 a.m. | Last Modified: 26 Nov 2021, 5:53 a.m.

Panel Version: 0.737

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type IX, MIM# 259440

Publications

PMID: 19781681
32392875

Created: 26 Nov 2021, 5:53 a.m.
Last Modified: 26 Nov 2021, 5:53 a.m.
Panel version: Imported from Fetal anomalies panel version 0.737

Details

Mode of Inheritance

Unknown

Sources

Victorian Clinical Genetics Services
Expert Review Green
Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

OMIM

123841

Clinvar variants

Variants in PPIB

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PPIB was added gene: PPIB was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PPIB was set to Unknown

Skeletal Dysplasia_Fetal Gene: PPIB