Syndromic Retinopathy
Gene: TMEM218EnsemblGeneIds (GRCh38): ENSG00000150433
EnsemblGeneIds (GRCh37): ENSG00000150433
TMEM218 is in 6 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 39, MIM#619562
Bryony Thompson (Royal Melbourne Hospital)
11 cases 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. No OMIM entry.
Sources: LiteratureCreated: 26 Nov 2020, 11:21 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- 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
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TMEM218 were changed from Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele to Joubert syndrome 39, MIM#619562; retinal dystrophy; polycystic kidneys; occipital encephalocele
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: tmem218 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: tmem218 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TMEM218 was added gene: TMEM218 was added to Syndromic Retinopathy. Sources: Literature Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM218 were set to https://doi.org/10.1016/j.xhgg.2020.100016; 25161209 Phenotypes for gene: TMEM218 were set to Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele Review for gene: TMEM218 was set to GREEN