Skeletal dysplasia
Gene: P3H1
OI and decreasing bone density gp of SD. Previously called LEPRE1 - >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 VIII 610915
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: P3H1; 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.
Comment on list classification: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 11 Jul 2016, 10:12 a.m.
Tier 1Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type VIII 610915
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Osteogenesis imperfecta, type VIII 610915 for gene: P3H1
Source NHS GMS was added to P3H1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for P3H1 were set to Osteogenesis imperfecta, type VIII 610915
P3H1 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,UKGTN
Phenotypes for P3H1 were set to Osteogenesis imperfecta, type VIII 610915
This gene has been classified as Green List (High Evidence).
LEPRE1* was changed to P3H1
Phenotypes for gene LEPRE1* were set to OI2;Osteogenesis imperfecta, type VIII 610915
LEPRE1* was added to Unexplained skeletal dysplasiapanel. Source: Expert list Model of inheritance for gene LEPRE1* was set to BIALLELIC, autosomal or pseudoautosomal
LEPRE1* was created by sleigh
LEPRE1* was added to Unexplained skeletal dysplasiapanel. Sources: