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| Respiratory ciliopathies including non-CF bronchiectasis v3.8 | NME5 | Achchuthan Shanmugasundram Classified gene: NME5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.8 | NME5 | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.8 | NME5 | Achchuthan Shanmugasundram Gene: nme5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.7 | NME5 | Achchuthan Shanmugasundram Phenotypes for gene: NME5 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 48, without situs inversus, OMIM:620032 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.6 | NME5 | Achchuthan Shanmugasundram Publications for gene: NME5 were set to 32185794; 31479451 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.5 | NME5 |
Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: NME5. Tag Q4_23_NHS_review tag was added to gene: NME5. |
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| Respiratory ciliopathies including non-CF bronchiectasis v3.5 | NME5 |
Achchuthan Shanmugasundram changed review comment from: 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.; to: 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). |
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| Respiratory ciliopathies including non-CF bronchiectasis v3.5 | NME5 | Achchuthan Shanmugasundram reviewed gene: NME5: Rating: GREEN; Mode of pathogenicity: None; Publications: 32185794, 37957793; Phenotypes: Ciliary dyskinesia, primary, 48, without situs inversus, OMIM:620032; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v3.3 | NME5 | Steven Cowman reviewed gene: NME5: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37957793; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.16 | NME5 | Ivone Leong Classified gene: NME5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.16 | NME5 | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.16 | NME5 | Ivone Leong Gene: nme5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.15 | NME5 | Ivone Leong Tag watchlist tag was added to gene: NME5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.15 | NME5 | Ivone Leong Publications for gene: NME5 were set to 32185794 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.7 | NME5 |
Zornitza Stark gene: NME5 was added gene: NME5 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Mode of inheritance for gene: NME5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NME5 were set to 32185794 Phenotypes for gene: NME5 were set to Primary ciliary dyskinesia Review for gene: NME5 was set to AMBER Added comment: 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 |
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