1. Genes and Genomic Entities
  2. TMEM251

TMEM251

transmembrane protein 251
Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber TMEM251 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.38
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Dysostosis multiplex, Ain-Naz type, OMIM:19345
    • severe short stature
    Tags
    • new-gene-name
    Green TMEM251 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.181
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Dysostosis multiplex, Ain-Naz type, OMIM:619345
    Tags
    • new-gene-name
    Red TMEM251 in Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 6.4
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Dysostosis multiplex, Ain-Naz type, OMIM:619345
    • craniosynostosis, MONDO:0015469
    Tags
    • new-gene-name
    Green TMEM251 in DDG2P


    Version 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TMEM251-related skeletal dysplasia
    Tags
    • new-gene-name