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Date	Panel	Item	Activity
Filter activities 4 actions
31 Dec 2019	Hereditary Spastic Paraplegia - paediatric v0.3	GRID2	Bryony Thompson Marked gene: GRID2 as ready
31 Dec 2019	Hereditary Spastic Paraplegia - paediatric 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.
31 Dec 2019	Hereditary Spastic Paraplegia - paediatric v0.3	GRID2	Bryony Thompson Gene: grid2 has been classified as Red List (Low Evidence).
31 Dec 2019	Hereditary Spastic Paraplegia - paediatric 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