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| Hereditary Spastic Paraplegia - paediatric v0.37 | KIF5A | Zornitza Stark Marked gene: KIF5A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.37 | KIF5A | Zornitza Stark Gene: kif5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.37 | KIF5A | Zornitza Stark Classified gene: KIF5A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.37 | KIF5A | Zornitza Stark Gene: kif5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.36 | KIF5A |
Zornitza Stark gene: KIF5A was added gene: KIF5A was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF5A were set to 16489470; 21623771; 15452312; 18853458; 16476820 Phenotypes for gene: KIF5A were set to Spastic paraplegia 10, autosomal dominant, MIM# 604187 Review for gene: KIF5A was set to GREEN Added comment: Highly variable phenotype: some individuals have onset of a 'pure' spastic paraplegia, with lower limb spasticity, hyperreflexia, extensor plantar responses, and variable involvement of the upper limbs beginning in childhood or young adulthood. Some individuals show distal sensory impairment, which can be part of the 'pure' phenotype. However, some individuals also show an axonal sensorimotor peripheral neuropathy with distal sensory impairment and distal muscle atrophy reminiscent of CMT. Rarely, individuals with KIF5A mutations may have additional neurologic features, including parkinsonism or cognitive decline, consistent with a 'complicated' phenotype. Spastic paraplegia and peripheral neuropathy in isolation likely represent extreme ends of the phenotypic spectrum of KIF5A mutations. Sources: Expert list |
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