Osteogenesis Imperfecta and Osteoporosis
Gene: KIF5BEnsemblGeneIds (GRCh38): ENSG00000170759
EnsemblGeneIds (GRCh37): ENSG00000170759
OMIM: 602809, Gene2Phenotype
KIF5B is in 5 panels
1 review
Seb Lunke (Victorian Clinical Genetics Services)
Four additional patients with three distinct de-novo missense variants and features consistent with osteogenesis imperfecta. All variants are in the Kinesin motor domain (~50% of the protein). Functional data in C. Elegans and cell lines shows impaired protein function. Not clear what distinguishes OI causing variants from other phenotypes for this gene at this stage. Dominant negative effect proposed but not conclusively proven.
Sources: LiteratureCreated: 7 Dec 2023, 1:31 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
osteogenesis imperfecta, MONDO:0019019
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- osteogenesis imperfecta, MONDO:0019019
- OMIM
- 602809
- Clinvar variants
- Variants in KIF5B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: kif5b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: kif5b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: kif5b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)gene: KIF5B was added gene: KIF5B was added to Osteogenesis Imperfecta and Osteoporosis. Sources: Literature 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 gene: KIF5B was marked as current diagnostic