| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v4.23 | KIF24 | Eleanor Williams Tag gene-checked tag was added to gene: KIF24. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.23 | KIF24 | Eleanor Williams commented on 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 tag | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.20 | KIF24 | Eleanor Williams Tag Q4_22_promote_green was removed from gene: KIF24. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.20 | KIF24 | Eleanor Williams reviewed gene: KIF24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v4.19 | KIF24 |
Eleanor Williams 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) |
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| Skeletal dysplasia v2.221 | KIF24 | Arina Puzriakova Classified gene: KIF24 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.221 | KIF24 | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.221 | KIF24 | Arina Puzriakova Gene: kif24 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v2.220 | KIF24 |
Arina Puzriakova 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 Added comment: 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: Literature |
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