Neurological ciliopathies
Gene: TMEM218Comment on publications: PMID:35137054 reports three additional cases from two unrelated families and functional evidence including results from zebrafish model.Created: 20 Feb 2023, 1:57 p.m. | Last Modified: 20 Feb 2023, 1:57 p.m.
Panel Version: 2.7
Comment on publications: PMID:35137054 reports three additional cases from two unrelated families and functional evidence including results from zebrafish model.Created: 20 Feb 2023, 1:57 p.m. | Last Modified: 20 Feb 2023, 1:57 p.m.
Panel Version: 2.7
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 4:05 p.m. | Last Modified: 8 Mar 2022, 4:05 p.m.
Panel Version: 1.29
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 should be rated Green at the next review.Created: 17 Nov 2021, 3:18 p.m. | Last Modified: 17 Nov 2021, 3:18 p.m.
Panel Version: 1.24
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JOUBERT SYNDROME 39
Publications
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
Publications for gene: TMEM218 were set to 25161209; 33791682; 35137054
Publications for gene: TMEM218 were set to 25161209; 33791682
Tag gene-checked tag was added to gene: TMEM218.
Tag Q4_21_rating was removed from gene: TMEM218. Tag Q4_21_NHS_review was removed from gene: TMEM218.
Source Expert Review Green was added to TMEM218. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: tmem218 has been classified as Amber List (Moderate Evidence).
Tag Q4_21_NHS_review tag was added to gene: TMEM218.
Tag Q4_21_rating tag was added to gene: TMEM218.
Phenotypes for gene: TMEM218 were changed from Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele to Joubert syndrome 39, OMIM:619562
Publications for gene: TMEM218 were set to 25161209; https://doi.org/10.1016/j.xhgg.2020.100016
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