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Childhood onset hereditary spastic paraplegia v1.136 FA2H Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.136 FA2H Louise Daugherty Publications for gene: FA2H were set to 19068277
Childhood onset hereditary spastic paraplegia v1.75 FA2H Louise Daugherty Source Yorkshire and North East GLH was added to FA2H.
Childhood onset hereditary spastic paraplegia v1.74 FA2H Louise Daugherty commented on gene: FA2H: 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 FA2H Nick Beauchamp reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 19068277, 20853438; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.48 FA2H Louise Daugherty reviewed gene: FA2H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.6 FA2H James Polke reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 35, autosomal recessive, 611026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.5 FA2H Louise Daugherty Source NHS GMS was added to FA2H.
Childhood onset hereditary spastic paraplegia v1.4 FA2H Louise Daugherty Source London North GLH was added to FA2H.
Childhood onset hereditary spastic paraplegia v1.3 FA2H Louise Daugherty Added phenotypes Spastic paraplegia 35, autosomal recessive, 612319 for gene: FA2H
Childhood onset hereditary spastic paraplegia v0.101 FA2H Louise Daugherty Publications for gene: FA2H were set to Edvardson et al. (2008)
Childhood onset hereditary spastic paraplegia v0.100 FA2H Louise Daugherty Phenotypes for gene: FA2H were changed from Spastic paraplegia 35, autosomal recessive to Spastic paraplegia 35, autosomal recessive, 612319
Childhood onset hereditary spastic paraplegia v0.62 FA2H Arianna Tucci commented on gene: FA2H
Childhood onset hereditary spastic paraplegia v0.6 FA2H Sarah Leigh gene: FA2H was added
gene: FA2H was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FA2H were set to Edvardson et al. (2008)
Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive