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| Hereditary Spastic Paraplegia - paediatric v0.215 | SPART | Zornitza Stark Marked gene: SPART as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.215 | SPART | Zornitza Stark Gene: spart has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.215 | SPART | Zornitza Stark Phenotypes for gene: SPART were changed from Troyer syndrome; Spastic paraplegia 20, autosomal recessive to Troyer syndrome, MIM# 275900; SPG20; MONDO:0010156 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.214 | SPART | Zornitza Stark changed review comment from: More than 5 unrelated families reported.; to: Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, pseudobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). More than 5 unrelated families reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.214 | SPART | Zornitza Stark Publications for gene: SPART were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.213 | SPART | Zornitza Stark reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: None; Publications: 12134148, 20437587, 26003402, 27112432, 31535723, 31535723, 28875386, 28679690; Phenotypes: Troyer syndrome, MIM# 275900, SPG20, MONDO:0010156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.0 | SPART |
Bryony Thompson gene: SPART was added gene: SPART was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPART were set to Troyer syndrome; Spastic paraplegia 20, autosomal recessive |
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