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Gene: P3H1

P3H1 (prolyl 3-hydroxylase 1)
EnsemblGeneIds (GRCh38): ENSG00000117385
EnsemblGeneIds (GRCh37): ENSG00000117385
OMIM: 610339, Gene2Phenotype
P3H1 is in 10 panels

1 review

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VIII is an autosomal recessive OI characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses.

More than 15 families reported. Congenital onset.

Gene previously known as LEPRE1.
Created: 31 Jan 2025, 2:30 a.m. | Last Modified: 31 Jan 2025, 2:30 a.m.

Panel Version: 1.1397

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type VIII, MIM#610915

Publications

Created: 31 Jan 2025, 2:30 a.m.
Last Modified: 31 Jan 2025, 2:30 a.m.
Panel version: 1.1397

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Mackenzie's Mission

Phenotypes

Osteogenesis imperfecta, type VIII, 610915 (3)

OMIM

610339

Clinvar variants

Variants in P3H1

Penetrance

None

Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Osteogenesis imperfecta, type VIII, 610915 (3) for gene: P3H1

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: P3H1 was added gene: P3H1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: P3H1 were set to Osteogenesis imperfecta, type VIII, 610915 (3)

Prepair 1000+ Gene: P3H1