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Childhood onset hereditary spastic paraplegia v1.164 PNPLA6 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.116 PNPLA6 Louise Daugherty Publications for gene: PNPLA6 were set to 18313024
Childhood onset hereditary spastic paraplegia v1.75 PNPLA6 Louise Daugherty Source Yorkshire and North East GLH was added to PNPLA6.
Childhood onset hereditary spastic paraplegia v1.74 PNPLA6 Nick Beauchamp reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313024, 24355708, 23733235; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 PNPLA6 Louise Daugherty commented on gene: PNPLA6: 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 PNPLA6 Louise Daugherty reviewed gene: PNPLA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 PNPLA6 James Polke reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 39, autosomal recessive, 612020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.5 PNPLA6 Louise Daugherty Source NHS GMS was added to PNPLA6.
Childhood onset hereditary spastic paraplegia v1.4 PNPLA6 Louise Daugherty Source London North GLH was added to PNPLA6.
Childhood onset hereditary spastic paraplegia v1.3 PNPLA6 Louise Daugherty Added phenotypes Spastic paraplegia 39, autosomal recessive, 612020 for gene: PNPLA6
Childhood onset hereditary spastic paraplegia v0.120 PNPLA6 Louise Daugherty Publications for gene: PNPLA6 were set to Rainier et al. (2008)
Childhood onset hereditary spastic paraplegia v0.119 PNPLA6 Louise Daugherty Phenotypes for gene: PNPLA6 were changed from Spastic paraplegia 39, autosomal recessive to Spastic paraplegia 39, autosomal recessive, 612020
Childhood onset hereditary spastic paraplegia v0.62 PNPLA6 Arianna Tucci commented on gene: PNPLA6
Childhood onset hereditary spastic paraplegia v0.6 PNPLA6 Sarah Leigh gene: PNPLA6 was added
gene: PNPLA6 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA6 were set to Rainier et al. (2008)
Phenotypes for gene: PNPLA6 were set to Spastic paraplegia 39, autosomal recessive