1. Genes and Genomic Entities
  2. TMEM17

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 9.4
Latest signed off version: v9.0 (12 Aug 2026)

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
    • gene-checked
    Amber TMEM17 in Cystic kidney disease


    Level 2: Renal
    Version 9.2
    Latest signed off version: v9.1 (12 Aug 2026)

    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
    • gene-checked
    Green TMEM17 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

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


    Level 2: Neurology
    Version 7.2
    Latest signed off version: v7.1 (12 Aug 2026)

    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
    • gene-checked
    • Q2_26_promote_green
    Amber TMEM17 in Renal ciliopathies


    Level 2: Renal
    Version 5.2
    Latest signed off version: v5.1 (12 Aug 2026)

    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
    • gene-checked
    • Q2_26_promote_green