Fetal anomalies
Gene: KIF24

KIF24 (kinesin family member 24)
EnsemblGeneIds (GRCh38): ENSG00000186638
EnsemblGeneIds (GRCh37): ENSG00000186638
OMIM: 613747, Gene2Phenotype
KIF24 is in 2 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 BIALLELIC, autosomal or pseudoautosomal 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
BIALLELIC, autosomal or pseudoautosomal

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)

Green on skeletal dysplasia panel. Went green in Oct 2023. PMID: 35748595 3 families two hom missense, 1 compound het. 5 probands in total. Family 1(2 patients) acromesomelic_like skeletal dysplasia with severe shortening of forelimbs and extreme short stature, platyspondyly involving the whole spine. Family 2 (1 patient) presented at 7 years with ? juvenile arthritis Spinal radiographs revealed reduced vertebral height suggesting compression fractures. Long_bone radiographs showed irregularities in the metaphyseal regions. Family 3 - 3 affected fetuses all presented some features of ATD including a small round ilium with trident acetabulum and shortening and bowing of the long tubular bones. These anomalies as well as the fetal growth restriction and oligoamnios/anhydramnios led to the termination of the pregnancies for all three affected fetuses between gestational weeks 16 and 17.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.

Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Skeletal dysplasia

Publications

35748595

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

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

skeletal dysplasia, MONDO:0018230

Tags

gene-checked

OMIM

613747

Clinvar variants

Variants in KIF24

Penetrance

None

Publications

35748595

Panels with this gene