Respiratory ciliopathies including non-CF bronchiectasis

Gene: NEK10

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 11 Dec 2025, 4:33 p.m. | Last Modified: 11 Dec 2025, 4:33 p.m.

Panel Version: 4.50

Green List (high evidence)

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.

Created: 18 Dec 2025, 11:11 p.m. | Last Modified: 18 Dec 2025, 11:11 p.m.

Panel Version: 4.53

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.

Created: 4 Jul 2025, 1:23 p.m. | Last Modified: 4 Jul 2025, 1:23 p.m.

Panel Version: 4.12

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).

Created: 4 Jul 2025, 1:20 p.m. | Last Modified: 17 Jul 2025, 1:55 p.m.

Panel Version: 4.41

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 44, OMIM:618781

Publications

• 32414360
• 35728977

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."

Created: 8 Mar 2022, 11:15 a.m. | Last Modified: 8 Mar 2022, 11:15 a.m.

Panel Version: 1.55

After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.

Created: 8 Mar 2022, 11:15 a.m. | Last Modified: 8 Mar 2022, 11:20 a.m.

Panel Version: 1.55

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.

Created: 2 Dec 2020, 2:17 p.m. | Last Modified: 2 Dec 2020, 2:17 p.m.

Panel Version: 1.32

Comment on publications: PMID: 32414360 is an additional case

Created: 2 Dec 2020, 2:16 p.m. | Last Modified: 2 Dec 2020, 2:16 p.m.

Panel Version: 1.31

Green List (high evidence)

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

Created: 25 May 2020, 7:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 44, MIM# 618781

Publications

• 31959991

Variants in this GENE are reported as part of current diagnostic practice