TMEM72

transmembrane protein 72
Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber TMEM72 in Tubulointerstitial kidney disease


Level 2: Renal
Version 3.32
Latest signed off version: v3.5 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • nephronophthisis, MONDO:0019005
    Tags
    • Q1_26_promote_green
    Amber TMEM72 in Cystic kidney disease


    Level 2: Renal
    Version 8.13
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Unexplained young onset end-stage renal disease
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • nephronophthisis, MONDO:0019005
    Tags
    • Q1_26_promote_green
    Amber TMEM72 in Renal ciliopathies


    Level 2: Renal
    Version 4.19
    Latest signed off version: v4.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Unexplained young onset end-stage renal disease
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • nephronophthisis, MONDO:0019005
    Tags
    • Q1_26_promote_green