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Fetal anomalies

Gene: KIF5B

Green List (high evidence)

KIF5B (kinesin family member 5B)
EnsemblGeneIds (GRCh38): ENSG00000170759
EnsemblGeneIds (GRCh37): ENSG00000170759
OMIM: 602809, Gene2Phenotype
KIF5B is in 5 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

4 individuals with Kyphomelic dysplasia (severe bowing of the limbs, sharp angulation of the femora and humeri, short stature, narrow thorax, distinctive facial features, and neonatal respiratory distress. WES found de novo heterozygous missense variants in KIF5B encoding kinesin-1 heavy chain. All variants involved conserved amino acids in or close to the ATPase activity-related motifs in the catalytic motor domain of the KIF5B protein. No functional studies of variants.

Previously 2 animal model experiments showed that loss of function of KIF5B can cause kyphomelic dysplasia. First, chondrocyte-specific knockout of Kif5b in mice was shown to produce a disorganized growth plate, leading to bone deformity. Second, double mutants disrupting the two zebrafish kif5b caused abnormal skeletal morphogenesis and the curvature of Meckel's and ceratohyal cartilages.
Sources: Literature
Created: 29 Aug 2022, 9:34 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Kyphomelic dysplasia, no OMIM #

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Kyphomelic dysplasia, no OMIM #
OMIM
602809
Clinvar variants
Variants in KIF5B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: kif5b has been classified as Green List (High Evidence).

29 Aug 2022, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: KIF5B was added gene: KIF5B was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF5B were set to PMID: 35342932 Phenotypes for gene: KIF5B were set to Kyphomelic dysplasia, no OMIM # Review for gene: KIF5B was set to GREEN