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Dystonia, chorea or related movement disorder, adult onset v1.87 SPG11 Arina Puzriakova Phenotypes for gene: SPG11 were changed from Complex parkinsonism; hereditary spastic paraparesis; Early Onset Complex Disease; early onset parkinsonism, levo dopa responsve to Spastic paraplegia 11, autosomal recessive, OMIM:604360; Charcot-Marie-Tooth disease, axonal, type 2X, OMIM:616668; Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099
Dystonia, chorea or related movement disorder, adult onset v0.54 SPG11 Louise Daugherty reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dystonia, chorea or related movement disorder, adult onset v0.53 SPG11 James Polke reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Dystonia, chorea or related movement disorder, adult onset v0.52 SPG11 Louise Daugherty Source NHS GMS was added to SPG11.
Dystonia, chorea or related movement disorder, adult onset v0.51 SPG11 Louise Daugherty Source London North GLH was added to SPG11.
Dystonia, chorea or related movement disorder, adult onset v0.2 SPG11 Ellen McDonagh gene: SPG11 was added
gene: SPG11 was added to Adult onset movement disorder. Sources: Expert Review Green
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 27820618; 19224311; 21381113
Phenotypes for gene: SPG11 were set to Complex parkinsonism; hereditary spastic paraparesis; Early Onset Complex Disease; early onset parkinsonism, levo dopa responsve