| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ciliary Dyskinesia v1.37 | NME5 | Achchuthan Shanmugasundram reviewed gene: NME5: Rating: GREEN; Mode of pathogenicity: None; Publications: 37957793; Phenotypes: Ciliary dyskinesia, primary, 48, without situs inversus, OMIM:620032; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.116 | NME5 | Zornitza Stark Marked gene: NME5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.116 | NME5 | Zornitza Stark Added comment: Comment when marking as ready: Single family and animal model, upgrade to Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.116 | NME5 | Zornitza Stark Gene: nme5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.116 | NME5 | Zornitza Stark Classified gene: NME5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.116 | NME5 | Zornitza Stark Gene: nme5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.115 | NME5 | Chirag Patel Mode of inheritance for gene: NME5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.115 | NME5 | Chirag Patel Mode of inheritance for gene: NME5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.114 | NME5 | Chirag Patel Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.114 | NME5 |
Chirag Patel edited their review of gene: NME5: Added comment: 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; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal |
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| Ciliary Dyskinesia v0.114 | NME5 |
Chirag Patel 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 Added comment: 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 |
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