TMEM251:Ensemblv90

transmembrane protein 251
ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber TMEM251 in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dysostosis multiplex, Ain-Naz type 619345

Amber TMEM251 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.365

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dysostosis multiplex, Ain-Naz type 619345

Amber TMEM251 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Dysostosis multiplex, Ain-Naz type 619345