Fetal anomalies
Gene: KIF5B

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.

Panel Version: 5.78

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.

Panel Version: 5.16

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.78

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Amber on OI & Skeletal dysplasia. Comments on both to say enough evidence to go green but not yet approved. PMID 35342932 4 patients 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 de novo missense. No functional evidence of specific variant claim dominant negative. PMID:36018820 3 more cases 2 de novo one paternally inherited, none with skeletal dysplasia but all have myopathic features (so does other paper). Inherited case had DCM phenotype and segregated with disease in family. Zebrafish also had cardiac phenotype only with the variant so maybe overexpression rather than dominant negative impact. Green from first paper but concerns with 2nd paper.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.

Panel Version: 5.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Kyphomelic dysplasia

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

kyphomelic dysplasia, MONDO:0008881

Tags

gene-checked

OMIM

602809

Clinvar variants

Variants in KIF5B

Penetrance

None

Publications

Panels with this gene