TMEM17

transmembrane protein 17
OMIM: 614950, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber TMEM17 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.76

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Meckel syndrome MONDO:0018921
  • TMEM17-related

Amber TMEM17 in Mendeliome


Version 1.2833

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Meckel syndrome MONDO:0018921
  • TMEM17-related

Amber TMEM17 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.287

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Meckel syndrome MONDO:0018921
    • TMEM17-related

    Amber TMEM17 in Renal Ciliopathies and Nephronophthisis


    Level 2: Renal and urinary tract disorders
    Version 1.33

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Meckel syndrome MONDO:0018921
    • TMEM17-related

    Amber TMEM17 in Fetal anomalies


    Version 1.388

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Meckel syndrome MONDO:0018921
    • TMEM17-related