Osteogenesis Imperfecta and Osteoporosis
Gene: PPIB

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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, 9:05 a.m. | Last Modified: 26 Nov 2021, 9:05 a.m.

Panel Version: 0.68

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type IX, MIM# 259440

Publications

Created: 26 Nov 2021, 9:05 a.m.
Last Modified: 26 Nov 2021, 9:05 a.m.
Panel version: 0.68

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Osteogenesis imperfecta, type IX, MIM# 259440

OMIM

123841

Clinvar variants

Variants in PPIB

Penetrance

None

Publications

Panels with this gene