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Childhood onset hereditary spastic paraplegia v1.147 B4GALNT1 Louise Daugherty Publications for gene: B4GALNT1 were set to 23746551
Childhood onset hereditary spastic paraplegia v1.146 B4GALNT1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.75 B4GALNT1 Louise Daugherty Source Yorkshire and North East GLH was added to B4GALNT1.
Childhood onset hereditary spastic paraplegia v1.74 B4GALNT1 Louise Daugherty commented on gene: B4GALNT1: 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 B4GALNT1 Nick Beauchamp reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746551, 24283893; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.48 B4GALNT1 Louise Daugherty reviewed gene: B4GALNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 B4GALNT1 James Polke reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 26, autosomal recessive, 609195; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.5 B4GALNT1 Louise Daugherty Source NHS GMS was added to B4GALNT1.
Childhood onset hereditary spastic paraplegia v1.4 B4GALNT1 Louise Daugherty Source London North GLH was added to B4GALNT1.
Childhood onset hereditary spastic paraplegia v1.3 B4GALNT1 Louise Daugherty Added phenotypes Spastic paraplegia 26, autosomal recessive, 609195 for gene: B4GALNT1
Childhood onset hereditary spastic paraplegia v0.78 B4GALNT1 Louise Daugherty Publications for gene: B4GALNT1 were set to Boukhris et al. (2013)
Childhood onset hereditary spastic paraplegia v0.77 B4GALNT1 Louise Daugherty Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia 26, autosomal recessive to Spastic paraplegia 26, autosomal recessive, 609195
Childhood onset hereditary spastic paraplegia v0.77 B4GALNT1 Louise Daugherty Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia 26, autosomal recessive to Spastic paraplegia 26, autosomal recessive, 609195
Childhood onset hereditary spastic paraplegia v0.62 B4GALNT1 Arianna Tucci commented on gene: B4GALNT1
Childhood onset hereditary spastic paraplegia v0.6 B4GALNT1 Sarah Leigh gene: B4GALNT1 was added
gene: B4GALNT1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green
Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALNT1 were set to Boukhris et al. (2013)
Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive