Activity
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| Respiratory ciliopathies including non-CF bronchiectasis v4.53 | NEK10 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #618781) and the OMIM record was last accessed on 18 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.53 | NEK10 | Achchuthan Shanmugasundram Phenotypes for gene: NEK10 were changed from Ciliary dyskinesia, primary, 44, OMIM:618781; ciliary dyskinesia, primary, 44, MONDO:0032914 to Ciliary dyskinesia, primary, 44, OMIM:618781; ciliary dyskinesia, primary, 44, MONDO:0032914 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.52 | NEK10 | Achchuthan Shanmugasundram Phenotypes for gene: NEK10 were changed from Ciliary dyskinesia, primary, 44, OMIM:618781, MONDO:0032914 to Ciliary dyskinesia, primary, 44, OMIM:618781; ciliary dyskinesia, primary, 44, MONDO:0032914 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.51 | NEK10 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: NEK10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.50 | NEK10 | Eleanor Williams Tag Q2_25_ promote_green was removed from gene: NEK10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.50 | NEK10 | Eleanor Williams reviewed gene: NEK10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.49 | NEK10 |
Eleanor Williams Source NHS GMS was added to NEK10. Source Expert Review Green was added to NEK10. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Respiratory ciliopathies including non-CF bronchiectasis v4.41 | NEK10 |
Achchuthan Shanmugasundram changed review comment from: NEK10 has the gene-disease validity rating of 'Strong' in ClinGen. Additional cases reported with ciliopathy now. PMID:32414360 - Two siblings were reported with a classical primary ciliary dyskinesia and were identified with a homozygous truncating variant (p.Tyr1134Ter) in the NEK10 gene. They both presented with bronchiectasis and chronic cough. PMID:35728977 - Using the genetic data from severe bronchiectasis patients recruited to the Genomics England 100k Genomes Project, one patient was identified with compound heterozugous variants (c.1A>G & c.1028+1G>T). This gene has been associated with relevant phenotypes in OMIM (MIM #618781).; to: The ClinGen Motile Ciliopathy expert panel has classified the association of NEK10 gene to ciliary dyskinesia, primary, 44 (MONDO:0032914) as 'Strong'. More information can be found in https://search.clinicalgenome.org/CCID:005617. Additional cases reported with ciliopathy now. PMID:32414360 - Two siblings were reported with a classical primary ciliary dyskinesia and were identified with a homozygous truncating variant (p.Tyr1134Ter) in the NEK10 gene. They both presented with bronchiectasis and chronic cough. PMID:35728977 - Using the genetic data from severe bronchiectasis patients recruited to the Genomics England 100k Genomes Project, one patient was identified with compound heterozugous variants (c.1A>G & c.1028+1G>T). This gene has been associated with relevant phenotypes in OMIM (MIM #618781). |
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| Respiratory ciliopathies including non-CF bronchiectasis v4.12 | NEK10 | Achchuthan Shanmugasundram Classified gene: NEK10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.12 | NEK10 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available now from three different studies for the association of biallelic variants in NEK10 gene with this panel. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.12 | NEK10 | Achchuthan Shanmugasundram Gene: nek10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.11 | NEK10 | Achchuthan Shanmugasundram Publications for gene: NEK10 were set to 31959991; 32414360 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.10 | NEK10 |
Achchuthan Shanmugasundram Tag watchlist was removed from gene: NEK10. Tag Q2_25_ promote_green tag was added to gene: NEK10. |
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| Respiratory ciliopathies including non-CF bronchiectasis v4.10 | NEK10 | Achchuthan Shanmugasundram reviewed gene: NEK10: Rating: GREEN; Mode of pathogenicity: None; Publications: 32414360, 35728977; Phenotypes: Ciliary dyskinesia, primary, 44, OMIM:618781; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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