1. Genes and Genomic Entities
  2. TMEM251

TMEM251

transmembrane protein 251
Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber TMEM251 in Arthrogryposis


Level 2: Neurology
Version 10.15
Latest signed off version: v10.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dysostosis multiplex, Ain-Naz type, OMIM:619345
  • dysostosis multiplex, Ain-Naz type, MONDO:0859156
Tags
  • Q3_26_promote_green
  • new-gene-name
Amber TMEM251 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 9.31
Latest signed off version: v9.0 (6 May 2026)

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:619345
    • dysostosis multiplex, Ain-Naz type, MONDO:0859156
    Tags
    • Q3_26_promote_green
    • new-gene-name
    Amber TMEM251 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.24
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Dysostosis multiplex, Ain-Naz type, OMIM:619345
    • dysostosis multiplex, Ain-Naz type, MONDO:0859156
    • lysosomal storage disease with skeletal involvement, MONDO:0800088
    Tags
    • Q3_26_promote_green
    • new-gene-name
    Green TMEM251 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.28
    Latest signed off version: v7.0 (6 May 2026)

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


    Level 2: Musculoskeletal
    Version 6.12
    Latest signed off version: v6.0 (30 Apr 2025)

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


    Version 7.8
    Latest signed off version: v7.0 (6 May 2026)

    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