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| Hereditary Spastic Paraplegia - adult onset v0.61 | CPT1C | Zornitza Stark Phenotypes for gene: CPT1C were changed from Spastic paraplegia 73, autosomal dominant, MIM#616282 to Spastic paraplegia 73, autosomal dominant, MIM#616282; MONDO:0014568 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.60 | CPT1C | Zornitza Stark Mode of inheritance for gene: CPT1C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.30 | CPT1C | Zornitza Stark Publications for gene: CPT1C were set to 25751282; 30911584; 30564185 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.29 | CPT1C | Zornitza Stark Marked gene: CPT1C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.29 | CPT1C | Zornitza Stark Gene: cpt1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.29 | CPT1C | Zornitza Stark Phenotypes for gene: CPT1C were changed from ?Spastic paraplegia 73, autosomal dominant, 616282 to Spastic paraplegia 73, autosomal dominant, MIM#616282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.28 | CPT1C | Zornitza Stark Publications for gene: CPT1C were set to 25751282; 30911584 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.27 | CPT1C | Zornitza Stark reviewed gene: CPT1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564185; Phenotypes: Spastic paraplegia 73, autosomal dominant 616282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.7 | CPT1C | Bryony Thompson reviewed gene: CPT1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 25751282, 23973755; Phenotypes: Spastic paraplegia 73, autosomal dominant 616282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.0 | CPT1C |
Bryony Thompson gene: CPT1C was added gene: CPT1C was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CPT1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CPT1C were set to 25751282; 30911584 Phenotypes for gene: CPT1C were set to ?Spastic paraplegia 73, autosomal dominant, 616282 |
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