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| Respiratory ciliopathies including non-CF bronchiectasis v1.55 | TTC12 |
Ivone Leong Tag for-review was removed from gene: TTC12. Tag watchlist tag was added to gene: TTC12. |
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| Respiratory ciliopathies including non-CF bronchiectasis v1.55 | TTC12 | Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.55 | TTC12 | Ivone Leong commented on gene: TTC12: Submitted on behalf of NHS GMS "Only 6 variants in HGMD, all from the one study Thomas et al. Again as in NKE10 its not clear that full variant analysis has been done to ACGS standard, e.g. the homozygous variant c.1700T>G being described as pathogenic appear to be based on PM2 but has low frequency in gnomad and parents are related, PP3, PM1 (tricky to use in a new assocaited gene), and PS3 for study showing reduced TTC12. There is clearly strong evidence in this particular study but would argue that its too soon for inclusion in a diagnostic panel, but warrants further study. Amber genes can be included in panel designs for this research." | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.55 | TTC12 | Ivone Leong commented on gene: TTC12: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.37 | TTC12 | Ivone Leong Classified gene: TTC12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.37 | TTC12 | Ivone Leong Gene: ttc12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.36 | TTC12 | Ivone Leong Classified gene: TTC12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.36 | TTC12 | Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.36 | TTC12 | Ivone Leong Gene: ttc12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.35 | TTC12 | Ivone Leong Tag for-review tag was added to gene: TTC12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.35 | TTC12 | Ivone Leong Phenotypes for gene: TTC12 were changed from Ciliary dyskinesia to Ciliary dyskinesia, primary, 45, OMIM:618801; MONDO:0032924 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.7 | TTC12 |
Zornitza Stark gene: TTC12 was added gene: TTC12 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert list Mode of inheritance for gene: TTC12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC12 were set to 31978331 Phenotypes for gene: TTC12 were set to Ciliary dyskinesia Review for gene: TTC12 was set to GREEN gene: TTC12 was marked as current diagnostic Added comment: Four unrelated families with LoF variants reported with a respiratory phenotype. Sources: Expert list |
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