Ciliopathies
Gene: TMEM218EnsemblGeneIds (GRCh38): ENSG00000150433
EnsemblGeneIds (GRCh37): ENSG00000150433
TMEM218 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 3 unrelated families reported, with a range of ciliopathy phenotypes, including Joubert syndrome, MKS and BBS.
Sources: Expert ReviewCreated: 31 Aug 2022, 4:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 39, MIM#619562; retinal dystrophy; polycystic kidneys; occipital encephalocele
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Joubert syndrome 39, MIM#619562
- retinal dystrophy
- polycystic kidneys
- occipital encephalocele
- Clinvar variants
- Variants in TMEM218
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tmem218 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tmem218 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TMEM218 was added gene: TMEM218 was added to Ciliopathies. Sources: Expert Review Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM218 were set to 35137054; 33791682 Phenotypes for gene: TMEM218 were set to Joubert syndrome 39, MIM#619562; retinal dystrophy; polycystic kidneys; occipital encephalocele Review for gene: TMEM218 was set to GREEN