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| Hereditary Spastic Paraplegia v0.3 | GRID2 | Bryony Thompson Marked gene: GRID2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v0.3 | GRID2 | Bryony Thompson Added comment: Comment when marking as ready: Deletion not detectable using exome sequencing and only one reported case with spastic paraplegia. This gene is associated with Spinocerebellar ataxia, autosomal recessive 18, 616204. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v0.3 | GRID2 | Bryony Thompson Gene: grid2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v0.3 | GRID2 |
Bryony Thompson gene: GRID2 was added gene: GRID2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: GRID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GRID2 were set to 24122788 Phenotypes for gene: GRID2 were set to Complicated spastic paraplegia Review for gene: GRID2 was set to RED Added comment: One case with a de novo partial deletion of exon1 of GRID2 with a complicated spastic paraplegia phenotype. Sources: Expert list |
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