TMEM218

transmembrane protein 218
OMIM: 619285, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green TMEM218 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
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 2.0

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

Green TMEM218 in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 1.0

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

Green TMEM218 in Fetal anomalies


Version 2.0

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