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| Hereditary Spastic Paraplegia - paediatric v1.76 | KIF1A | Zornitza Stark Phenotypes for gene: KIF1A were changed from Spastic paraplegia 30, MIM# 610357 to Spastic paraplegia 30, autosomal dominant MIM# 610357; Spastic paraplegia 30, autosomal recessive 620607 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.75 | KIF1A | Zornitza Stark edited their review of gene: KIF1A: Changed phenotypes: Spastic paraplegia 30, autosomal dominant MIM# 610357, Spastic paraplegia 30, autosomal recessive 620607 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.35 | KIF1A | Zornitza Stark Marked gene: KIF1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.35 | KIF1A | Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.35 | KIF1A | Zornitza Stark Classified gene: KIF1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.35 | KIF1A | Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.34 | KIF1A |
Zornitza Stark gene: KIF1A was added gene: KIF1A was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: KIF1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KIF1A were set to 26410750; 21487076; 22258533; 32096284; 31488895; 29159194; 25585697 Phenotypes for gene: KIF1A were set to Spastic paraplegia 30, MIM# 610357 Review for gene: KIF1A was set to GREEN Added comment: Spastic paraplegia-30 (SPG30) is a neurologic disorder characterized by onset of slowly progressive spastic paraplegia in the first or second decades of life. Affected individuals have unsteady spastic gait and hyperreflexia of the lower limbs. Some patients have a 'pure' form of the disorder, limited to spastic paraplegia, whereas others may have a 'complicated' form that includes cognitive dysfunction, learning disabilities, or behavioral abnormalities, peripheral sensorimotor neuropathy, urinary sphincter problems, and/or cerebellar atrophy with thin corpus callosum on brain imaging. The phenotypic features represent a spectrum of abnormalities of the central, peripheral, and autonomic nervous system. Mono-allelic and bi-allelic variants can both cause HSP, multiple families reported with both. Sources: Expert list |
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