TMEM251

Amber TMEM251 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

• Expert Review Amber
• Literature

Phenotypes

• Dysostosis multiplex, Ain-Naz type, OMIM:19345
• severe short stature

Tags

• new-gene-name
• gene-checked

Red TMEM251 in Rare syndromic craniosynostosis or isolated multisuture synostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.179
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Literature

Phenotypes

• Dysostosis multiplex, Ain-Naz type, OMIM:619345
• craniosynostosis, MONDO:0015469

Tags

• new-gene-name
• gene-checked

Green TMEM251 in DDG2P

Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• TMEM251-related skeletal dysplasia

Tags

• new-gene-name
• gene-checked