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Hereditary Spastic Paraplegia - adult onset v0.107 | SPG7 | Zornitza Stark Marked gene: SPG7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - adult onset v0.107 | SPG7 | Zornitza Stark Gene: spg7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - adult onset v0.107 | SPG7 | Zornitza Stark Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive, 607259 to Spastic paraplegia 7, autosomal recessive, 607259; MONDO:0011803 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - adult onset v0.106 | SPG7 | Zornitza Stark Publications for gene: SPG7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary Spastic Paraplegia - adult onset v0.60 | CPT1C |
Zornitza Stark changed review comment from: Two more individuals identified as part of a cohort study.; to: Two more individuals identified as part of a cohort study. Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies. |
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Hereditary Spastic Paraplegia - adult onset v0.0 | SPG7 |
Bryony Thompson gene: SPG7 was added gene: SPG7 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive, 607259 |