SERPINH1

Green SERPINH1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

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

Phenotypes

• Osteogenesis Imperfecta, Recessive
• OI3
• Osteogenesis Imperfecta and Decreased Bone Density
• skeletal dysplasias
• {Preterm premature rupture of the membranes, susceptibility to}, 610504
• Osteogenesis imperfecta, type X, 613848

Green SERPINH1 in Fetal anomalies

Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• Expert list

Phenotypes

• Osteogenesis imperfecta, type X, OMIM:613848
• Osteogenesis imperfecta type 10, MONDO:0013459

Green SERPINH1 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
• Emory Genetics Laboratory
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen
• Expert

Phenotypes

• {Preterm premature rupture of the membranes, susceptibility to}, 610504
• Osteogenesis imperfecta, type X, 613848
• Osteogenesis Imperfecta, Recessive
• Osteogenesis Imperfecta and Decreased Bone Density
• skeletal dysplasias

Green SERPINH1 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Osteogenesis imperfecta, type X, 613848