SOST

Green SOST 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
• Expert Review Green
• Expert

Phenotypes

• Craniodiaphyseal dysplasia, autosomal dominant 122860
• Van Buchem disease 239100
• Sclerosteosis 1 269500

Green SOST in Fetal anomalies

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

Sources

• PAGE Additional Gene List
• Expert Review Green

Phenotypes

• SOST-Related Sclerosing Bone Dysplasias 122860
• Sclerosteosis 1, 269500
• Craniodiaphyseal dysplasia, autosomal dominant, 122860

Red SOST in Osteogenesis imperfecta

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

Sources

• Expert

Green SOST in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Craniodiaphyseal dysplasia, autosomal dominant, 122860
• Sclerosteosis 1, 269500
• Van Buchem disease, 239100

Green SOST in Osteopetrosis

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.34
Latest signed off version: v1.1 (21 Sep 2020)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Sclerosteosis 1 OMIM:269500
• Craniodiaphyseal dysplasia, autosomal dominant OMIM:122860
• Van Buchem disease OMIM:239100