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Ciliary Dyskinesia

Gene: NME5

Amber List (moderate evidence)
NME5 (NME/NM23 family member 5)
EnsemblGeneIds (GRCh38): ENSG00000112981
EnsemblGeneIds (GRCh37): ENSG00000112981
OMIM: 603575, Gene2Phenotype
NME5 is in 2 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England)

Green List (high evidence)

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).

There are two unrelated cases and zebrafish model available in support of this gene-disease association and hence this gene can be promoted to green rating.
Created: 8 Dec 2023, 10:18 p.m. | Last Modified: 8 Dec 2023, 10:18 p.m.
Panel Version: 1.37

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 8 Dec 2023, 10:18 p.m.
Last Modified: 8 Dec 2023, 10:18 p.m.
Panel version: 1.37

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Single family and animal model, upgrade to Amber.
Created: 1 Jul 2020, 9:26 a.m. | Last Modified: 1 Jul 2020, 9:26 a.m.
Panel Version: 0.116
Created: 1 Jul 2020, 9:26 a.m.
Last Modified: 1 Jul 2020, 9:26 a.m.
Panel version: 0.116

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

One patient 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, 5:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary ciliary dyskinesia

Publications

Created: 1 Jul 2020, 5:51 a.m.

Panel version: 0.114

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary ciliary dyskinesia
OMIM
603575
Clinvar variants
Variants in NME5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nme5 has been classified as Amber List (Moderate Evidence).

1 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nme5 has been classified as Amber List (Moderate Evidence).

1 Jul 2020, Gel status: 1

Set mode of inheritance

Chirag Patel (Genetic Health Queensland)

Mode of inheritance for gene: NME5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

1 Jul 2020, Gel status: 1

Set mode of inheritance

Chirag Patel (Genetic Health Queensland)

Mode of inheritance for gene: NME5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

1 Jul 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: NME5 was added gene: NME5 was added to Ciliary Dyskinesia. Sources: Literature Mode of inheritance for gene: NME5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NME5 were set to PMID: 32185794 Phenotypes for gene: NME5 were set to Primary ciliary dyskinesia Review for gene: NME5 was set to RED