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Hereditary spastic paraplegia, childhood onset v1.164 SPG11 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia, childhood onset v1.75 SPG11 Louise Daugherty Source Yorkshire and North East GLH was added to SPG11.
Hereditary spastic paraplegia, childhood onset v1.74 SPG11 Nick Beauchamp reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia, childhood onset v1.74 SPG11 Louise Daugherty commented on gene: SPG11: 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.
Hereditary spastic paraplegia, childhood onset v1.48 SPG11 Louise Daugherty reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.6 SPG11 James Polke reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 11, autosomal recessive, 604360, Amyotrophic lateral sclerosis 5, juvenile, 602099, AR, Charcot-Marie-Tooth disease, axonal, type 2X 616668, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia, childhood onset v1.5 SPG11 Louise Daugherty Source NHS GMS was added to SPG11.
Hereditary spastic paraplegia, childhood onset v1.4 SPG11 Louise Daugherty Source London North GLH was added to SPG11.
Hereditary spastic paraplegia, childhood onset v1.3 SPG11 Louise Daugherty Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360 for gene: SPG11
Publications for gene SPG11 were changed from 17322883; 16699786 to 16699786; 17322883
Hereditary spastic paraplegia, childhood onset v1.0 SPG11 Arianna Tucci commented on gene: SPG11
Hereditary spastic paraplegia, childhood onset v0.133 SPG11 Louise Daugherty Publications for gene: SPG11 were set to Stevanin et al. (2007)
Hereditary spastic paraplegia, childhood onset v0.132 SPG11 Louise Daugherty Phenotypes for gene: SPG11 were changed from Spastic paraplegia 11, autosomal recessive to Spastic paraplegia 11, autosomal recessive, 604360
Hereditary spastic paraplegia, childhood onset v0.6 SPG11 Sarah Leigh gene: SPG11 was added
gene: SPG11 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to Stevanin et al. (2007)
Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive