TMEM218

transmembrane protein 218
Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TMEM218 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.54

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Joubert syndrome 39, MIM#619562
  • retinal dystrophy
  • polycystic kidneys
  • occipital encephalocele

Green TMEM218 in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.27

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 39, MIM#619562
  • retinal dystrophy
  • polycystic kidneys
  • occipital encephalocele

Green TMEM218 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 39, MIM#619562
  • retinal dystrophy
  • polycystic kidneys
  • occipital encephalocele

Green TMEM218 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Joubert syndrome 39, MIM#619562

Green TMEM218 in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 0.209

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Joubert syndrome 39, MIM#619562
    • retinal dystrophy
    • polycystic kidneys
    • occipital encephalocele

    Green TMEM218 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Joubert syndrome 39 - MIM#619562