Neurological ciliopathies

Gene: TMEM218

No list

TMEM218 (transmembrane protein 218)
EnsemblGeneIds (GRCh38): ENSG00000150433
EnsemblGeneIds (GRCh37): ENSG00000150433
TMEM218 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

11 individuals in 6 families with homozygous or compound heterozygous missense and nonsense (1) variants, with a Joubert/Meckel syndrome phenotype. Clinical features included the molar tooth sign (N=2), occipital encephalocele (N=5, all fetuses), retinal dystrophy (N=4, all living individuals), polycystic kidneys (N=2), and polydactyly (N=2), without liver involvement. A null mouse model had nephronophthisis and retinal degeneration.
Sources: Literature
Created: 9 Dec 2020, 7 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele

Publications

  • 25161209
  • https://doi.org/10.1016/j.xhgg.2020.100016

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome
  • retinal dystrophy
  • polycystic kidneys
  • occipital encephalocele
Clinvar variants
Variants in TMEM218
Penetrance
None
Publications
  • 25161209
  • https://doi.org/10.1016/j.xhgg.2020.100016
Panels with this gene

History Filter Activity

9 Dec 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: TMEM218 was added gene: TMEM218 was added to Neurological ciliopathies. Sources: Literature Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM218 were set to 25161209; https://doi.org/10.1016/j.xhgg.2020.100016 Phenotypes for gene: TMEM218 were set to Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele Review for gene: TMEM218 was set to GREEN