Fetal anomalies
Gene: PPIB

PPIB (peptidylprolyl isomerase B)
EnsemblGeneIds (GRCh38): ENSG00000166794
EnsemblGeneIds (GRCh37): ENSG00000166794
OMIM: 123841, Gene2Phenotype
PPIB is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.
Created: 29 Apr 2019, 12:28 p.m.

DDG2P rating in original PAGE list: Confirmed.
Created: 11 Dec 2018, 9:05 a.m.

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.222

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PAGE Additional Gene List
Expert Review Green

Phenotypes

Osteogenesis imperfecta, type IX 259440

OMIM

123841

Clinvar variants

Variants in PPIB

Penetrance

None

Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: PPIB was added gene: PPIB was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX 259440

Fetal anomalies Gene: PPIB