Rare multisystem ciliopathy disorders
Gene: TMEM218EnsemblGeneIds (GRCh38): ENSG00000150433
EnsemblGeneIds (GRCh37): ENSG00000150433
TMEM218 is in 6 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is sufficient evidence to support a gene-disease association. This gene has been rated Green.Created: 17 Nov 2021, 3:18 p.m. | Last Modified: 17 Nov 2021, 3:30 p.m.
Panel Version: 1.152
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JOUBERT SYNDROME 39
Publications
Zornitza Stark (Australian Genomics)
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: LiteratureCreated: 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
-
- Expert Review Green
- Literature
- Phenotypes
-
- Joubert syndrome 39, OMIM:619562
- Tags
- Clinvar variants
- Variants in TMEM218
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: TMEM218.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: tmem218 has been classified as Green List (High Evidence).
Removed Tag, Removed Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_rating was removed from gene: TMEM218. Tag Q4_21_NHS_review was removed from gene: TMEM218.
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TMEM218 was added gene: TMEM218 was added to Rare multisystem ciliopathy disorders. Sources: Literature,Expert Review Amber Q4_21_rating, Q4_21_NHS_review tags were added to gene: TMEM218. Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM218 were set to 25161209; 33791682 Phenotypes for gene: TMEM218 were set to Joubert syndrome 39, OMIM:619562