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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)

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

Panel version: 1.19

Eleanor Williams (Genomics England Curator)

I don't know

The mode of inheritance of this gene has been updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 2 Feb 2023, 11:26 p.m. | Last Modified: 2 Feb 2023, 11:26 p.m.
Panel Version: 3.5
Comment on mode of inheritance: Cole-Carpenter syndrome 1 is due to heterozygous variants in P4HB and so the mode of inheritance should be changed to monoallelic at the next review.
Created: 4 Apr 2022, 3:35 p.m. | Last Modified: 4 Apr 2022, 3:35 p.m.
Panel Version: 2.44
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.
Created: 3 Apr 2019, 4:08 p.m.

Panel version: 3.5

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

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

Panel version: 0

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.
Created: 12 May 2016, 1:40 p.m.

Panel version: 0.33

Raymond Dalgleish (University of Leicester)

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

Panel version: 0

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

Created: 9 Oct 2015, 9:24 a.m.

Panel version: 0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cole-Carpenter syndrome 1, OMIM:112240
  • Cole-Carpenter syndrome 1, MONDO:000720
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

2 Feb 2023, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_22_MOI was removed from gene: P4HB.

2 Feb 2023, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene P4HB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

4 Apr 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_22_MOI tag was added to gene: P4HB.

4 Apr 2022, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: P4HB were changed from Cole-Carpenter Syndrome; Osteogenesis Imperfecta; Cole Carpenter syndrome to Cole-Carpenter syndrome 1, OMIM:112240; Cole-Carpenter syndrome 1, MONDO:000720

4 Apr 2022, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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

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