TMEM17

transmembrane protein 17
OMIM: 614950, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber TMEM17 in Limb disorders


Level 2: Musculoskeletal
Version 7.31
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Meckel syndrome, MONDO:0018921
    • orofaciodigital syndrome type 6, MONDO:0010176
    • Joubert syndrome, MONDO:0018772
    Tags
    • Q2_26_promote_green
    Amber TMEM17 in Cystic kidney disease


    Level 2: Renal
    Version 8.15
    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
    • Meckel syndrome, MONDO:0018921
    • orofaciodigital syndrome type 6, MONDO:0010176
    • Joubert syndrome, MONDO:0018772
    Tags
    • Q2_26_promote_green
    Green TMEM17 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.189
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • ciliopathy, MONDO:0005308
    Amber TMEM17 in Neurological ciliopathies


    Level 2: Neurology
    Version 6.19
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Meckel syndrome, MONDO:0018921
    • orofaciodigital syndrome type 6, MONDO:0010176
    • Joubert syndrome, MONDO:0018772
    Tags
    • Q2_26_promote_green
    Amber TMEM17 in Renal ciliopathies


    Level 2: Renal
    Version 4.21
    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
    • Meckel syndrome, MONDO:0018921
    • orofaciodigital syndrome type 6, MONDO:0010176
    • Joubert syndrome, MONDO:0018772
    Tags
    • Q2_26_promote_green