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| Neurological ciliopathies v2.7 | TMEM218 | Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:35137054 reports three additional cases from two unrelated families and functional evidence including results from zebrafish model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v2.7 | TMEM218 | Achchuthan Shanmugasundram Publications for gene: TMEM218 were set to 25161209; 33791682; 35137054 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v2.7 | TMEM218 | Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:35137054 reports three additional cases from two unrelated families and functional evidence including results from zebrafish model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v2.7 | TMEM218 | Achchuthan Shanmugasundram Publications for gene: TMEM218 were set to 25161209; 33791682 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.31 | TMEM218 | Eleanor Williams Tag gene-checked tag was added to gene: TMEM218. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.29 | TMEM218 |
Eleanor Williams Tag Q4_21_rating was removed from gene: TMEM218. Tag Q4_21_NHS_review was removed from gene: TMEM218. |
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| Neurological ciliopathies v1.29 | TMEM218 | Sarah Leigh commented on gene: TMEM218 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.28 | TMEM218 |
Eleanor Williams Source Expert Review Green was added to TMEM218. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Neurological ciliopathies v1.24 | TMEM218 | Ivone Leong Classified gene: TMEM218 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.24 | TMEM218 | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.24 | TMEM218 | Ivone Leong Gene: tmem218 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.23 | TMEM218 | Ivone Leong Tag Q4_21_NHS_review tag was added to gene: TMEM218. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.23 | TMEM218 | Ivone Leong Tag Q4_21_rating tag was added to gene: TMEM218. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.23 | TMEM218 | Ivone Leong Phenotypes for gene: TMEM218 were changed from Joubert syndrome; retinal dystrophy; polycystic kidneys; occipital encephalocele to Joubert syndrome 39, OMIM:619562 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.22 | TMEM218 | Ivone Leong Publications for gene: TMEM218 were set to 25161209; https://doi.org/10.1016/j.xhgg.2020.100016 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.20 | TMEM218 | Tom Cullup reviewed gene: TMEM218: Rating: GREEN; Mode of pathogenicity: None; Publications: 33791682; Phenotypes: JOUBERT SYNDROME 39; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.10 | TMEM218 |
Zornitza Stark 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 Added comment: 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 |
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