P3H1

Green P3H1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• NHS GMS
• UKGTN
• Emory Genetics Laboratory
• Expert Review Green
• Expert list

Phenotypes

• Osteogenesis imperfecta, type VIII 610915

Green P3H1 in Fetal anomalies

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• OSTEOGENESIS IMPERFECTA, TYPE VIII

Green P3H1 in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green
• UKGTN
• Emory Genetics Laboratory
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen

Phenotypes

• Osteogenesis imperfecta, type VIII, 610915
• Osteogenesis Imperfecta, Recessive
• Osteogenesis Imperfecta and Decreased Bone Density
• skeletal dysplasias
• Osteogenesis Imperfecta Types VII, VIII And IX

Green P3H1 in DDG2P

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• OSTEOGENESIS IMPERFECTA, TYPE VIII 610915

Red P3H1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Red
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• Gene2Phenotype confirmed gene with ID HPO

Green P3H1 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Osteogenesis imperfecta, type VIII, 610915