Skeletal dysplasia
Gene: PPIB

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

OI and decreasing bone density gp of SD, gene previously called CYPB. >3 cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type IX 259440

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PPIB; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 9:50 a.m.

Created: 27 Jul 2016, 9:50 a.m.

Panel version: 0.704

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type IX 259440

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:07 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Illumina TruGenome Clinical Sequencing Services
Expert Review Green
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory
UKGTN
Expert

Phenotypes

Osteogenesis imperfecta, type IX 259440
Osteogenesis imperfecta, type IX 259440

OMIM

123841

Clinvar variants

Variants in PPIB

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Osteogenesis imperfecta, type IX 259440 for gene: PPIB

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to PPIB. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4