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| Respiratory ciliopathies including non-CF bronchiectasis v1.55 | NEK10 |
Ivone Leong Tag for-review was removed from gene: NEK10. Tag watchlist tag was added to gene: NEK10. |
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| Respiratory ciliopathies including non-CF bronchiectasis v1.55 | NEK10 | 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 | NEK10 | Ivone Leong commented on gene: NEK10: Submitted on behalf of NHS GMS "Evidence is from one study, and is not clear that full variant analysis has been done on the variants, e.g. the homozygous missense c.2243C>T described as pathogenic based on PM2, conserved amino acid and familial segregation but according to the relevant pedigree for kindred 3 (extended data fig 1 g) there are only 2 affected individuals, one of which is the proband, and this is in a consanguineous family, we would not classify this as pathogenic according to ACGS criteria. Limited varaints reported in HGMD. As above, this gene would warrant further research but too soon for inclusion on routine diagnostic testing. Amber genes can be included in panel designs for this research." | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.55 | NEK10 | Ivone Leong commented on gene: NEK10: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.32 | NEK10 | Ivone Leong Tag for-review tag was added to gene: NEK10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.32 | NEK10 | Ivone Leong Classified gene: NEK10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.32 | NEK10 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM. There is enough evidence to support a gene-disease association. This gene should be promoted to Green status at next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.32 | NEK10 | Ivone Leong Gene: nek10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.31 | NEK10 | Ivone Leong Added comment: Comment on publications: PMID: 32414360 is an additional case | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.31 | NEK10 | Ivone Leong Publications for gene: NEK10 were set to 31959991 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.30 | NEK10 | Ivone Leong Phenotypes for gene: NEK10 were changed from Ciliary dyskinesia, primary, 44, MIM# 618781 to Ciliary dyskinesia, primary, 44, OMIM:618781, MONDO:0032914 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.7 | NEK10 | Zornitza Stark edited their review of gene: NEK10: Changed phenotypes: Ciliary dyskinesia, primary, 44, MIM# 618781; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.7 | NEK10 |
Zornitza Stark gene: NEK10 was added gene: NEK10 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Expert list Mode of inheritance for gene: NEK10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK10 were set to 31959991 Phenotypes for gene: NEK10 were set to Ciliary dyskinesia, primary, 44, MIM# 618781 Review for gene: NEK10 was set to GREEN Added comment: Nine individuals from 5 unrelated families, some functional data demonstrating hypoplastic or shorter cilia, and reduced overall ciliary motion compared to controls. No individuals had situs inversus but most had recurrent sinusitis and bronchiectasis. Sources: Expert list |
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