| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hereditary Spastic Paraplegia - adult onset v0.89 | NIPA1 | Zornitza Stark Publications for gene: NIPA1 were set to 14508710; 15711826 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.88 | NIPA1 | Zornitza Stark Mode of inheritance for gene: NIPA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.87 | NIPA1 | Zornitza Stark edited their review of gene: NIPA1: Changed publications: 14508710, 15711826, 32500351, 25133278; Changed phenotypes: Spastic paraplegia 6, autosomal dominant, MIM# 600363 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.87 | NIPA1 | Zornitza Stark Marked gene: NIPA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.87 | NIPA1 | Zornitza Stark Gene: nipa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.87 | NIPA1 | Zornitza Stark Phenotypes for gene: NIPA1 were changed from Spastic paraplegia 6, autosomal dominant, MIM# 600363 to Spastic paraplegia 6, autosomal dominant, MIM# 600363; MONDO:0010878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.86 | NIPA1 | Zornitza Stark Phenotypes for gene: NIPA1 were changed from Spasticparaplegia 6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363 to Spastic paraplegia 6, autosomal dominant, MIM# 600363 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.85 | NIPA1 | Zornitza Stark Publications for gene: NIPA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.84 | NIPA1 |
Zornitza Stark changed review comment from: Onset typically in second/third decade, but onset in late childhood also reported. Sources: Expert list; to: Onset typically in second/third decade. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.0 | NIPA1 |
Bryony Thompson gene: NIPA1 was added gene: NIPA1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NIPA1 were set to Spasticparaplegia 6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||