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| Hereditary Spastic Paraplegia - paediatric v0.213 | SLC2A1 | Zornitza Stark Marked gene: SLC2A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.213 | SLC2A1 | Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.213 | SLC2A1 | Zornitza Stark Phenotypes for gene: SLC2A1 were changed from Developmental delay; autosomal dominant, complicated hereditary spastic paraplegia (HSP); paroxysmal choreoathetosis; spastic paraplegia; seizure to GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777; Developmental delay; autosomal dominant, complicated hereditary spastic paraplegia (HSP); paroxysmal choreoathetosis; spastic paraplegia; seizure | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.212 | SLC2A1 | Zornitza Stark Mode of inheritance for gene: SLC2A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.211 | SLC2A1 | Zornitza Stark reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.0 | SLC2A1 |
Bryony Thompson gene: SLC2A1 was added gene: SLC2A1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC2A1 were set to Developmental delay; autosomal dominant, complicated hereditary spastic paraplegia (HSP); paroxysmal choreoathetosis; spastic paraplegia; seizure |
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