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Osteogenesis imperfecta

Gene: P4HB

Green List (high evidence)

P4HB (prolyl 4-hydroxylase subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000185624
EnsemblGeneIds (GRCh37): ENSG00000185624
OMIM: 176790, Gene2Phenotype
P4HB is in 7 panels

6 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

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: P4HB; Suggested initial gene rating: green
Created: 3 Apr 2019, 4:08 p.m.

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis Imperfecta, Cole Carpenter syndrome

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Conflicting expert reviews of the mode of inheritance, therefore "both" has been chosen. It is monoallelic both in G2P and DD, and in PMID:25683117.
Created: 12 May 2016, 1:42 p.m.
Comment on list classification: Gene added by a reviewer, and an additional green review. It is a probable DD gene for Cole-Carpenter syndrome, and seems to be a newly reported gene.
Created: 12 May 2016, 1:40 p.m.

Raymond Dalgleish (University of Leicester)

https://oi.gene.le.ac.uk/home.php?select_db=P4HB
Created: 8 Dec 2015, noon

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

Green List (high evidence)

Single mutation reported to cause Cole-carpenter syndrome - NM_000918.3: c.1178A>G p.(Tyr393Cys)
Created: 9 Oct 2015, 9:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cole-Carpenter syndrome

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cole-Carpenter Syndrome
  • Osteogenesis Imperfecta
  • Cole Carpenter syndrome
OMIM
176790
Clinvar variants
Variants in P4HB
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
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 P4HB. Rating Changed from Green List (high evidence) to Green List (high evidence)

12 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

12 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for P4HB were set to Cole-Carpenter Syndrome; Osteogenesis Imperfecta; Cole Carpenter syndrome

12 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for P4HB was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

12 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

9 Oct 2015, Gel status: 0

Added New Source

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

P4HB was added to Osteogenesis Imperfecta panel. Sources: Expert Review