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Hereditary spastic paraplegia - childhood onset v1.164 SLC16A2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia - childhood onset v1.109 SLC16A2 Louise Daugherty Publications for gene: SLC16A2 were set to 12871948
Hereditary spastic paraplegia - childhood onset v1.75 SLC16A2 Louise Daugherty Source Yorkshire and North East GLH was added to SLC16A2.
Hereditary spastic paraplegia - childhood onset v1.74 SLC16A2 Nick Beauchamp reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14661163, 19194886; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Hereditary spastic paraplegia - childhood onset v1.74 SLC16A2 Louise Daugherty commented on gene: SLC16A2: 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.
Hereditary spastic paraplegia - childhood onset v1.48 SLC16A2 Louise Daugherty reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia - childhood onset v1.6 SLC16A2 James Polke reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Allan-Herndon-Dudley syndrome 300523, XL; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hereditary spastic paraplegia - childhood onset v1.5 SLC16A2 Louise Daugherty Source NHS GMS was added to SLC16A2.
Hereditary spastic paraplegia - childhood onset v1.4 SLC16A2 Louise Daugherty Source London North GLH was added to SLC16A2.
Hereditary spastic paraplegia - childhood onset v1.3 SLC16A2 Louise Daugherty Added phenotypes Allan-Herndon-Dudley syndrome, 300523 for gene: SLC16A2
Hereditary spastic paraplegia - childhood onset v0.129 SLC16A2 Louise Daugherty Publications for gene: SLC16A2 were set to Friesema et al. (2003)
Hereditary spastic paraplegia - childhood onset v0.128 SLC16A2 Louise Daugherty Phenotypes for gene: SLC16A2 were changed from to Allan-Herndon-Dudley syndrome, 300523
Hereditary spastic paraplegia - childhood onset v0.62 SLC16A2 Arianna Tucci commented on gene: SLC16A2
Hereditary spastic paraplegia - childhood onset v0.6 SLC16A2 Sarah Leigh gene: SLC16A2 was added
gene: SLC16A2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Green
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC16A2 were set to Friesema et al. (2003)