Skeletal dysplasia

Gene: KIF5B

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 24 Feb 2025, 6:08 p.m. | Last Modified: 24 Feb 2025, 6:08 p.m.

Panel Version: 7.23

Comment on list classification: This gene should be rated GREEN for skeletal dysplasia as there are four unrelated cases associated with monoallelic variants in KIF5B gene.

Created: 8 Mar 2023, 11:47 a.m. | Last Modified: 8 Mar 2023, 11:47 a.m.

Panel Version: 3.11

4 individuals were reported with Kyphomelic dysplasia, which is characterised by severe bowing of the limbs, sharp angulation of the femora and humeri, short stature, narrow thorax, distinctive facial features, and neonatal respiratory distress. All these individuals harboured a de novo heterozygous missense variant in KIF5B gene ( two with c.272A>G (p.Lys91Arg), one with c.584C>A (p.Thr195Lys), and the other with c.701G>T(p.Gly234Val)). All three variants involved conserved amino acids in or close to the ATPase activity-related motifs in the catalytic motor domain of the KIF5B protein.
Sources: Literature

Created: 8 Mar 2023, 11:29 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
kyphomelic dysplasia, MONDO:0008881

Publications

• 35342932