Genes in panel

STRs in panel

Prev Next

Regions in panel

Prev Next

Osteogenesis imperfecta
Gene: P3H1

P3H1 (prolyl 3-hydroxylase 1)
EnsemblGeneIds (GRCh38): ENSG00000117385
EnsemblGeneIds (GRCh37): ENSG00000117385
OMIM: 610339, Gene2Phenotype
P3H1 is in 5 panels

5 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Created: 3 Apr 2019, 4:14 p.m.

Panel version: 1.19

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: P3H1; Suggested initial gene rating: green
Created: 3 Apr 2019, 4:08 p.m.

Created: 3 Apr 2019, 4:08 p.m.

Panel version: 1.18

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Raymond Dalgleish (University of Leicester)

Green List (high evidence)

https://oi.gene.le.ac.uk/home.php?select_db=P3H1
Created: 8 Dec 2015, noon

Created: 8 Dec 2015, noon

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Osteogenesis imperfecta, type VIII, 610915
Osteogenesis Imperfecta, Recessive
Osteogenesis Imperfecta and Decreased Bone Density
skeletal dysplasias
Osteogenesis Imperfecta Types VII, VIII And IX

OMIM

Clinvar variants

Variants in P3H1

Penetrance

Complete

Panels with this gene

History Filter Activity

13 Mar 2019, Gel status: 3

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)

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Green List (High Evidence).

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene P3H1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene P3H1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene P3H1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene P3H1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene P3H1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene P3H1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene P3H1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene P3H1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene P3H1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene P3H1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene P3H1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene P3H1 was changed to BIALLELIC, autosomal or pseudoautosomal

23 Jun 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

P3H1 was added to Osteogenesis Imperfecta panel. Sources: UKGTN

23 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

P3H1 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory

23 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene P3H1 was changed to BIALLELIC, autosomal or pseudoautosomal

23 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

P3H1 was added to Osteogenesis Imperfecta panel. Sources: Illumina TruGenome Clinical Sequencing Services

23 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

P3H1 was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen