TMEM218

transmembrane protein 218
Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green TMEM218 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TMEM218-associated ciliopathy
    Tags
    • gene-checked
    Green TMEM218 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 5.6
    Latest signed off version: v5.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Joubert syndrome 39, OMIM:619562
    Tags
    • gene-checked
    Green TMEM218 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.172

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Joubert syndrome 39, OMIM:619562
    Tags
    • gene-checked
    Green TMEM218 in Ophthalmological ciliopathies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Joubert syndrome 39, OMIM:619562
    Tags
    • gene-checked
    Green TMEM218 in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    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 Green
    • Literature
    Phenotypes
    • Joubert syndrome 39, OMIM:619562
    Tags
    • gene-checked