Skeletal dysplasia
Gene: P3H1EnsemblGeneIds (GRCh38): ENSG00000117385
EnsemblGeneIds (GRCh37): ENSG00000117385
OMIM: 610339, Gene2Phenotype
P3H1 is in 5 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
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
Eleanor Williams (Genomics England Curator)
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.
Sarah Leigh (Genomics England Curator)
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.
Ana Beleza (Bristol Regional Genetics Service)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- UKGTN
- Emory Genetics Laboratory
- Expert Review Green
- Phenotypes
-
- Osteogenesis imperfecta, type VIII 610915
- OMIM
- 610339
- Clinvar variants
- Variants in P3H1
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Osteogenesis imperfecta, type VIII 610915 for gene: P3H1
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to P3H1. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for P3H1 were set to Osteogenesis imperfecta, type VIII 610915
Upload gene information
Sarah Leigh (Genomics England Curator)P3H1 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for P3H1 were set to Osteogenesis imperfecta, type VIII 610915
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Changed Gene Name
Sarah Leigh (Genomics England Curator)LEPRE1* was changed to P3H1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene LEPRE1* were set to OI2;Osteogenesis imperfecta, type VIII 610915
Set Mode of Inheritance, Added New Source
Ana Beleza (Bristol Regional Genetics Service)LEPRE1* was added to Unexplained skeletal dysplasiapanel. Source: Expert list Model of inheritance for gene LEPRE1* was set to BIALLELIC, autosomal or pseudoautosomal
Created
Sarah Leigh (Genomics England Curator)LEPRE1* was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)LEPRE1* was added to Unexplained skeletal dysplasiapanel. Sources: