Osteogenesis imperfecta
Gene: P4HB
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: greenCreated: 3 Apr 2019, 4:08 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis Imperfecta, Cole Carpenter syndrome
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.
https://oi.gene.le.ac.uk/home.php?select_db=P4HBCreated: 8 Dec 2015, noon
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
Tag Q2_22_MOI was removed from gene: P4HB.
Mode of inheritance for gene P4HB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag Q2_22_MOI tag was added to gene: P4HB.
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
Mode of inheritance for gene: P4HB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source NHS GMS was added to P4HB. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for P4HB were set to Cole-Carpenter Syndrome; Osteogenesis Imperfecta; Cole Carpenter syndrome
Mode of inheritance for P4HB was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
P4HB was added to Osteogenesis Imperfecta panel. Sources: Expert Review