Osteogenesis Imperfecta and Osteoporosis
Gene: P4HB

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated individuals reported with same recurrent de novo missense variant, p.Tyr393Cys, and an additional individual with de novo intragenic deletion of exons 5-8. Bone fragility is part of the phenotype.
Created: 8 Aug 2020, 1:17 a.m. | Last Modified: 26 Mar 2023, 10:27 p.m.

Panel Version: 0.90

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cole-Carpenter syndrome 1, MIM#112240

Publications

Created: 8 Aug 2020, 1:17 a.m.
Last Modified: 26 Mar 2023, 10:27 p.m.
Panel version: 0.40

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Cole-Carpenter syndrome 1, MIM#112240

OMIM

176790

Clinvar variants

Variants in P4HB

Penetrance

None

Publications

Panels with this gene