Respiratory ciliopathies including non-CF bronchiectasis

Gene: NME5

Green List (high evidence)

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

Created: 4 Dec 2024, 5:04 p.m. | Last Modified: 4 Dec 2024, 5:04 p.m.

Panel Version: 3.23

Comment on list classification: There is sufficient evidence available (two unrelated cases and zebrafish model) for the promotion of this gene to green rating in the next GMS update.

Created: 8 Dec 2023, 10:13 p.m. | Last Modified: 8 Dec 2023, 10:13 p.m.

Panel Version: 3.8

Two unrelated cases were reported with biallelic NME5 variants. One patient was homozygous for p.Trp191Ter variant, while other was compound heterozygous with the same variant and p.Tyr160PhefsTer11. In addition, morpholino knockdown of nme5 in zebrafish embryos resulted in motile cilia defects with phenotypes compatible with ciliopathy.

This gene has been associated with relevant phenotypes in both OMIM (MIM #620032) and Gene2Phenotype (with 'definitive' rating in the DD panel).

Created: 8 Dec 2023, 10:09 p.m. | Last Modified: 8 Dec 2023, 10:10 p.m.

Panel Version: 3.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 48, without situs inversus, OMIM:620032

Publications

• 32185794
• 37957793

I don't know

In a study of 41 patients with a diagnosis of PCD, one male child was found to be compound heterozygous for two variants in NME5 c.572G>A, (p.Trp191Ter) and c.479_480del (p.Tyr160PhefsTer11). EM was not performed and there are no further clinical details for this specific patient.

Created: 23 Nov 2023, 12:56 p.m. | Last Modified: 23 Nov 2023, 12:56 p.m.

Panel Version: 3.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary ciliary dyskinesia

Publications

• PMID: 37957793

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a relevant phenotype in OMIM or Gene2Phenotype. Therefore, there is not enough evidence to support a gene-disease association. This gene has been given an Amber rating.

Created: 1 Dec 2020, 4:30 p.m. | Last Modified: 1 Dec 2020, 4:30 p.m.

Panel Version: 1.16

I don't know

One patient reported with PCD with situs solitus, with radial spokes (RS) and central pair (CP) defects. Patient had a homozygous nonsense variant in NME5, with parents as carriers. Morpholino knockdown of nme5 in zebrafish embryos resulted in motile cilia defects with phenotypes compatible with ciliopathy.
Sources: Literature

Created: 1 Jul 2020, 9:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary ciliary dyskinesia

Publications

• 32185794