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| Hereditary Spastic Paraplegia - adult onset v0.80 | GBA2 | Zornitza Stark Phenotypes for gene: GBA2 were changed from Spastic paraplegia 46, autosomal recessive, 614409 to Spastic paraplegia 46, autosomal recessive, 614409; MONDO:0013737 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.79 | GBA2 | Zornitza Stark edited their review of gene: GBA2: Changed phenotypes: Spastic paraplegia 46, autosomal recessive, MIM# 614409, MONDO:0013737 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.79 | GBA2 | Zornitza Stark edited their review of gene: GBA2: Changed publications: 23332916, 23332917, 29524657; Changed phenotypes: Spastic paraplegia 46, autosomal recessive, MIM# 614409 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.79 | GBA2 |
Zornitza Stark changed review comment from: A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging. Sources: Expert list; to: A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging. Adult onset reported, PMID 29524657. Sources: Expert list |
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| Hereditary Spastic Paraplegia - adult onset v0.79 | GBA2 | Zornitza Stark Marked gene: GBA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.79 | GBA2 | Zornitza Stark Gene: gba2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.79 | GBA2 | Zornitza Stark Publications for gene: GBA2 were set to 23332916; 23332917 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.78 | GBA2 | Zornitza Stark Publications for gene: GBA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.0 | GBA2 |
Bryony Thompson gene: GBA2 was added gene: GBA2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive, 614409 |
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