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Motor Neurone Disease v0.99 BSCL2 Zornitza Stark reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Motor Neurone Disease v0.40 BSCL2 Bryony Thompson Classified gene: BSCL2 as Green List (high evidence)
Motor Neurone Disease v0.40 BSCL2 Bryony Thompson Gene: bscl2 has been classified as Green List (High Evidence).
Motor Neurone Disease v0.39 BSCL2 Bryony Thompson gene: BSCL2 was added
gene: BSCL2 was added to Motor Neuron Disease. Sources: Expert list
Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BSCL2 were set to 16765570
Phenotypes for gene: BSCL2 were set to Silver spastic paraplegia syndrome MIM#270685; Neuropathy, distal hereditary motor, type VA MIM#600794
Review for gene: BSCL2 was set to GREEN
Added comment: The HSP and distal HMN caused by this gene can be classified as a non-ALS MND, affecting both upper and lower motor neurons.
Sources: Expert list