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| Primary ciliary disorders v1.32 | NEK10 | Arina Puzriakova Classified gene: NEK10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ciliary disorders v1.32 | NEK10 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zerin Hyder. NEK10 is associated with a relevant phenotype in OMIM. There is enough evidence to support a gene-disease association and so this gene has been added as Green - sufficient number of unrelated cases (>3) and functional support. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ciliary disorders v1.32 | NEK10 | Arina Puzriakova Gene: nek10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ciliary disorders v1.31 | NEK10 | Arina Puzriakova Phenotypes for gene: NEK10 were changed from primary ciliary dyskinesia; bronchiectasis to Ciliary dyskinesia, primary, 44, OMIM:618781 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ciliary disorders v1.30 | NEK10 | Arina Puzriakova Publications for gene: NEK10 were set to 31959991 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ciliary disorders v1.22 | NEK10 |
Zerin Hyder gene: NEK10 was added gene: NEK10 was added to Primary ciliary disorders. Sources: Other 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 primary ciliary dyskinesia; bronchiectasis Penetrance for gene: NEK10 were set to unknown Review for gene: NEK10 was set to GREEN Added comment: In 9 patients from 5 unrelated consanguineous or likely consanguineous families with primary ciliary dyskinesia, Chivikula et al identified homozygous mutations in the NEK10 gene, which segregated with the disorder in all families and was confirmed by linkage analysis in 3 families. Analysis of human bronchial epithelial cells (HBECs) derived from 1 patient showed almost absent NEK10 protein expression, hypoplastic or shorter cilia, and reduced overall ciliary motion compared to controls, suggesting a loss-of-function effect. Detailed functional studies of these cells showed almost absent mucociliary transport, although cilia radial ultrastructure and beat frequency were normal. All individuals had previously unexplained bronchiectasis with CF excluded and no extrapulmonary features or situs inversus. Sources: Other |
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