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Childhood onset hereditary spastic paraplegia v1.135 GBA2 Louise Daugherty Publications for gene: GBA2 were set to 23332916
Childhood onset hereditary spastic paraplegia v1.134 GBA2 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.75 GBA2 Louise Daugherty Source Yorkshire and North East GLH was added to GBA2.
Childhood onset hereditary spastic paraplegia v1.74 GBA2 Nick Beauchamp reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23332916, 24337409, 24252062; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 GBA2 Louise Daugherty commented on gene: GBA2: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Childhood onset hereditary spastic paraplegia v1.48 GBA2 Louise Daugherty reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 GBA2 James Polke reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 46, autosomal recessive, 614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.5 GBA2 Louise Daugherty Source NHS GMS was added to GBA2.
Childhood onset hereditary spastic paraplegia v1.4 GBA2 Louise Daugherty Source London North GLH was added to GBA2.
Childhood onset hereditary spastic paraplegia v1.3 GBA2 Louise Daugherty Added phenotypes Spastic paraplegia 46, autosomal recessive, 614409 for gene: GBA2
Childhood onset hereditary spastic paraplegia v0.62 GBA2 Arianna Tucci commented on gene: GBA2
Childhood onset hereditary spastic paraplegia v0.57 GBA2 Louise Daugherty Phenotypes for gene: GBA2 were changed from Spastic paraplegia 46, autosomal recessive to Spastic paraplegia 46, autosomal recessive, 614409
Childhood onset hereditary spastic paraplegia v0.56 GBA2 Louise Daugherty Publications for gene: GBA2 were set to Martin et al. (2013)
Childhood onset hereditary spastic paraplegia v0.6 GBA2 Sarah Leigh gene: GBA2 was added
gene: GBA2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA2 were set to Martin et al. (2013)
Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive