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Childhood onset hereditary spastic paraplegia v1.164 REEP1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.114 REEP1 Louise Daugherty Publications for gene: REEP1 were set to 16826527
Childhood onset hereditary spastic paraplegia v1.75 REEP1 Louise Daugherty Source Yorkshire and North East GLH was added to REEP1.
Childhood onset hereditary spastic paraplegia v1.74 REEP1 Nick Beauchamp reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826527, 18321925; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 REEP1 Louise Daugherty commented on gene: REEP1: 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 REEP1 Louise Daugherty reviewed gene: REEP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 REEP1 James Polke reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 31, autosomal dominant, 610250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia v1.5 REEP1 Louise Daugherty Source NHS GMS was added to REEP1.
Childhood onset hereditary spastic paraplegia v1.4 REEP1 Louise Daugherty Source London North GLH was added to REEP1.
Childhood onset hereditary spastic paraplegia v1.3 REEP1 Louise Daugherty Added phenotypes Spastic paraplegia 31, autosomal dominant, 610250 for gene: REEP1
Childhood onset hereditary spastic paraplegia v0.123 REEP1 Louise Daugherty Phenotypes for gene: REEP1 were changed from Spastic paraplegia 31, autosomal dominant to Spastic paraplegia 31, autosomal dominant, 610250
Childhood onset hereditary spastic paraplegia v0.122 REEP1 Louise Daugherty Publications for gene: REEP1 were set to Zuchner et al. (2006)
Childhood onset hereditary spastic paraplegia v0.62 REEP1 Arianna Tucci commented on gene: REEP1
Childhood onset hereditary spastic paraplegia v0.6 REEP1 Sarah Leigh gene: REEP1 was added
gene: REEP1 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: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: REEP1 were set to Zuchner et al. (2006)
Phenotypes for gene: REEP1 were set to Spastic paraplegia 31, autosomal dominant