Skeletal dysplasia
Gene: PPIB
OI and decreasing bone density gp of SD, gene previously called CYPB. >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type IX 259440
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: greenCreated: 6 Mar 2019, 11:36 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:50 a.m.
Tier 1Created: 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
Added phenotypes Osteogenesis imperfecta, type IX 259440 for gene: PPIB
Source NHS GMS was added to PPIB. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for PPIB were set to Osteogenesis imperfecta, type IX 259440
PPIB was added to Unexplained skeletal dysplasiapanel. Source: Expert PPIB was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen PPIB was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services PPIB was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory PPIB was added to Unexplained skeletal dysplasiapanel. Source: UKGTN PPIB was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene PPIB was set to BIALLELIC, autosomal or pseudoautosomal
PPIB was created by sleigh
PPIB was added to Unexplained skeletal dysplasiapanel. Sources: