Skeletal dysplasia
Gene: KIF5B
PMID:36018820 reported three additional unrelated cases with autosomal dominant KIF5B variants (p.Asn255del, p.Leu498Pro and p.Leu537Pro) resulting in a clinically wide phenotypic spectrum, ranging from dilated cardiomyopathy with adult-onset ophthalmoplegia and progressive skeletal myopathy to a neurodevelopmental condition characterised by severe hypotonia with or without seizures.Created: 8 Mar 2023, 2:12 p.m. | Last Modified: 8 Mar 2023, 2:12 p.m.
Panel Version: 3.11
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: LiteratureCreated: 8 Mar 2023, 11:29 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
kyphomelic dysplasia, MONDO:0008881
Publications
Gene: kif5b has been classified as Amber List (Moderate Evidence).
gene: KIF5B was added gene: KIF5B was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF5B were set to 35342932 Phenotypes for gene: KIF5B were set to kyphomelic dysplasia, MONDO:0008881 Review for gene: KIF5B was set to GREEN