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| Arthrogryposis v0.392 | KIF5C | Zornitza Stark Marked gene: KIF5C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.392 | KIF5C | Zornitza Stark Gene: kif5c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.381 | KIF5C | Chirag Patel Classified gene: KIF5C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.381 | KIF5C | Chirag Patel Gene: kif5c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.380 | KIF5C |
Chirag Patel gene: KIF5C was added gene: KIF5C was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: KIF5C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIF5C were set to Cortical dysplasia, complex, with other brain malformations 2, OMIM #615282 Review for gene: KIF5C was set to GREEN Added comment: 2 families with 5 affecteds with severe malformations of cortical development. One family with 4 siblings with severe arthrogryposis. Same heterozygous missense variant found in both families (E237V) in KIF5C gene. Family 1: unaffected mother was determined to be germline mosaic for the mutation. In vitro functional expression studies in E. coli and COS-7 cells showed that the mutant protein had a complete loss of ATP hydrolysis activity. In COS-7 cells, mutant KIF5C heavily colocalized with microtubules throughout the cell, but did not appear as puncta or accumulate in cortical clusters as did the wildtype protein. Poirier et al. (2013) postulated a dominant-negative effect. The findings extended the association between microtubule-based cellular processes and proper cortical development. Sources: Expert list |
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