| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.59 | KIF14 | Zornitza Stark Marked gene: KIF14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.59 | KIF14 | Zornitza Stark Gene: kif14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.34 | KIF14 | Chirag Patel Classified gene: KIF14 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.34 | KIF14 | Chirag Patel Gene: kif14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.33 | KIF14 |
Chirag Patel gene: KIF14 was added gene: KIF14 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Literature Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF14 were set to PMID: 30388224. 24128419 Phenotypes for gene: KIF14 were set to Microcephaly 20, primary, autosomal recessive, OMIM #617914; ?Meckel syndrome 12, OMIM #616258 Review for gene: KIF14 was set to GREEN Added comment: 1 family with 2 sib fetuses with features consistent with Meckel syndrome, with KIF14 mutations which segregated with the disorder in the family Mutations in KIF14 have previously been associated with either severe, isolated or syndromic microcephaly with renal hypodysplasia (RHD). Four families with fetuses presenting with the syndromic form and harbouring biallelic variants in KIF14. The functional analyses showed that the identified variants severely impact the activity of KIF14 and likely correspond to loss-of-function mutations. In vitro and in vivo analyses did not provide evidence of a direct role for KIF14 in ciliogenesis and suggested that loss of kif14 causes ciliopathy-like phenotypes through an accumulation of mitotic cells in ciliated tissues. Altogether, the results demonstrate that KIF14 mutations result in a severe syndrome associating microcephaly and RHD through its conserved function in cytokinesis during kidney and brain development. Sources: Literature |
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