CRTAP

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

Phenotypes

• Osteogenesis imperfecta, type VII 610682

Green CRTAP in Fetal anomalies

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

Sources

• PAGE Additional Gene List
• Expert Review Green

Phenotypes

• Osteogenesis imperfecta, type VII 610682

Red CRTAP in Rare syndromic craniosynostosis or isolated multisuture synostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0 (1 May 2024)

Sources

• NHS GMS

Phenotypes

• Cole Carpenter

Green CRTAP 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
• Expert

Phenotypes

• Osteogenesis imperfecta, type VII, 610682
• Osteogenesis Imperfecta, Recessive
• Osteogenesis Imperfecta and Decreased Bone Density
• skeletal dysplasias
• Osteogenesis Imperfecta Types VII, VIII And IX

Green CRTAP in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Osteogenesis imperfecta, type VII, 610682