SLC10A7

Green SLC10A7 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.65
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Literature

Phenotypes

• skeletal dysplasia and amelogenesis imperfecta
• Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363

Green SLC10A7 in Amelogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• Literature

Phenotypes

• skeletal dysplasia and amelogenesis imperfecta
• Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) 618363
• short stature
• amelogenesis imperfect hypo mineralised
• skeletal dysplasia
• scoliosis

Green SLC10A7 in Fetal anomalies

Version 3.169
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• DD-Gene2Phenotype

Phenotypes

• Chondrodysplasia with multiple dislocations and amelogenesis imperfecta

Green SLC10A7 in DDG2P

Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• Chondrodysplasia with multiple dislocations and amelogenesis imperfecta

Green SLC10A7 in Severe Paediatric Disorders

Version 1.184

Sources

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

Phenotypes

• Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, 618363