Activity

Filter

Cancel
Date Panel Item Activity
15 actions
Childhood onset hereditary spastic paraplegia v1.139 DDHD1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.139 DDHD1 Louise Daugherty Publications for gene: DDHD1 were set to 23176821
Childhood onset hereditary spastic paraplegia v1.75 DDHD1 Louise Daugherty Source Yorkshire and North East GLH was added to DDHD1.
Childhood onset hereditary spastic paraplegia v1.74 DDHD1 Louise Daugherty commented on gene: DDHD1: 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 v1.73 DDHD1 Nick Beauchamp reviewed gene: DDHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821, 24989667, 26944165; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.48 DDHD1 Louise Daugherty reviewed gene: DDHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 DDHD1 James Polke reviewed gene: DDHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 28, autosomal recessive, 609340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.5 DDHD1 Louise Daugherty Source NHS GMS was added to DDHD1.
Childhood onset hereditary spastic paraplegia v1.4 DDHD1 Louise Daugherty Source London North GLH was added to DDHD1.
Childhood onset hereditary spastic paraplegia v1.3 DDHD1 Louise Daugherty Added phenotypes Spastic paraplegia 28, autosomal recessive, 609340 for gene: DDHD1
Childhood onset hereditary spastic paraplegia v0.97 DDHD1 Louise Daugherty Publications for gene: DDHD1 were set to Tesson et al. (2012)
Childhood onset hereditary spastic paraplegia v0.96 DDHD1 Louise Daugherty Phenotypes for gene: DDHD1 were changed from Spastic paraplegia 28, autosomal recessive, 23176821 to Spastic paraplegia 28, autosomal recessive, 609340
Childhood onset hereditary spastic paraplegia v0.95 DDHD1 Louise Daugherty Phenotypes for gene: DDHD1 were changed from Spastic paraplegia 28, autosomal recessive to Spastic paraplegia 28, autosomal recessive, 23176821
Childhood onset hereditary spastic paraplegia v0.62 DDHD1 Arianna Tucci commented on gene: DDHD1
Childhood onset hereditary spastic paraplegia v0.6 DDHD1 Sarah Leigh gene: DDHD1 was added
gene: DDHD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDHD1 were set to Tesson et al. (2012)
Phenotypes for gene: DDHD1 were set to Spastic paraplegia 28, autosomal recessive