Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v5.3 | KIF5B | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: KIF5B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v5.3 | KIF5B | Ida Ertmanska Tag Q3_24_promote_green was removed from gene: KIF5B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v5.3 | KIF5B | Ida Ertmanska reviewed gene: KIF5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v5.2 | KIF5B |
Ida Ertmanska Source NHS GMS was added to KIF5B. Source Expert Review Green was added to KIF5B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v4.7 | KIF5B | Achchuthan Shanmugasundram Classified gene: KIF5B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v4.7 | KIF5B | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (four unrelated cases) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v4.7 | KIF5B | Achchuthan Shanmugasundram Gene: kif5b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis imperfecta v4.6 | KIF5B |
Achchuthan Shanmugasundram gene: KIF5B was added gene: KIF5B was added to Osteogenesis imperfecta. Sources: Literature Q3_24_promote_green tags were added to gene: KIF5B. Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF5B were set to 37934770 Phenotypes for gene: KIF5B were set to osteogenesis imperfecta, MONDO:0019019 Review for gene: KIF5B was set to GREEN Added comment: PMID:37934770 reported the identification of three distinct de novo heterozygous KIF5B variants (p.Thr87Ile, p.Gly90Ala and p.Thr195Lys) in four unrelated individuals with osteogenesis imperfecta (OI). All these variants are present within the highly conserved kinesis motor domain. Functional studies in C. elegans, human cell lines and bone biopsy show impaired protein function and suggest dominant negative mechanism for variants. It is not clear what distinguishes OI phenotypes from other phenotypes for this gene reported in PMIDs: 35342932 and 36018820. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||