Skeletal dysplasia
Gene: KIF24
This gene is not currently associated with a disease phenotype in OMIM, but checked PMID:35748595 to make sure it is the same gene listed in the publication as on this panel and it is, so added the gene-checked tagCreated: 16 Oct 2023, 8:41 p.m. | Last Modified: 16 Oct 2023, 8:41 p.m.
Panel Version: 4.23
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 11:08 a.m. | Last Modified: 11 Oct 2023, 11:08 a.m.
Panel Version: 4.20
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: This gene should be promoted to Green at the next GMS panel update, on the basis of three unrelated cases harbouring distinct biallelic variants in this gene, all presenting with variable skeletal manifestations.Created: 13 Oct 2022, 4:12 p.m. | Last Modified: 13 Oct 2022, 4:12 p.m.
Panel Version: 2.221
Reilly et al., 2022 (PMID: 35748595) identified six individuals from three unrelated families affected by a spectrum of skeletal abnormalities ranging from a lethal fetal skeletal ciliopathy to acromesomelic skeletal dysplasia and a less severe spondylometaphyseal dysplasia. All subjects harboured different biallelic missense variants in KIF24 which segregated with the phenotype. In vitro studies showed that ciliogenesis and cytokinesis were severely affected in amnioblasts of one affected fetus.
Sources: LiteratureCreated: 13 Oct 2022, 4:10 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Skeletal dysplasia
Publications
Tag gene-checked tag was added to gene: KIF24.
Tag Q4_22_promote_green was removed from gene: KIF24.
Source NHS GMS was added to KIF24. Source Expert Review Green was added to KIF24. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: kif24 has been classified as Amber List (Moderate Evidence).
gene: KIF24 was added gene: KIF24 was added to Skeletal dysplasia. Sources: Literature Q4_22_promote_green tags were added to gene: KIF24. Mode of inheritance for gene: KIF24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF24 were set to 35748595 Phenotypes for gene: KIF24 were set to Skeletal dysplasia Review for gene: KIF24 was set to GREEN