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Childhood onset hereditary spastic paraplegia v2.75 SLC16A2 Arina Puzriakova Publications for gene: SLC16A2 were set to 12871948; 14661163; 19194886
Childhood onset hereditary spastic paraplegia v2.74 SLC16A2 Arina Puzriakova Phenotypes for gene: SLC16A2 were changed from Allan-Herndon-Dudley syndrome, 300523 to Allan-Herndon-Dudley syndrome, OMIM:300523
Childhood onset hereditary spastic paraplegia v1.164 SLC16A2 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.109 SLC16A2 Louise Daugherty Publications for gene: SLC16A2 were set to 12871948
Childhood onset hereditary spastic paraplegia v1.75 SLC16A2 Louise Daugherty Source Yorkshire and North East GLH was added to SLC16A2.
Childhood onset hereditary spastic paraplegia 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
Childhood onset hereditary spastic paraplegia 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.
Childhood onset hereditary spastic paraplegia v1.48 SLC16A2 Louise Daugherty reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia 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
Childhood onset hereditary spastic paraplegia v1.5 SLC16A2 Louise Daugherty Source NHS GMS was added to SLC16A2.
Childhood onset hereditary spastic paraplegia v1.4 SLC16A2 Louise Daugherty Source London North GLH was added to SLC16A2.
Childhood onset hereditary spastic paraplegia v1.3 SLC16A2 Louise Daugherty Added phenotypes Allan-Herndon-Dudley syndrome, 300523 for gene: SLC16A2
Childhood onset hereditary spastic paraplegia v0.129 SLC16A2 Louise Daugherty Publications for gene: SLC16A2 were set to Friesema et al. (2003)
Childhood onset hereditary spastic paraplegia v0.128 SLC16A2 Louise Daugherty Phenotypes for gene: SLC16A2 were changed from to Allan-Herndon-Dudley syndrome, 300523
Childhood onset hereditary spastic paraplegia v0.62 SLC16A2 Arianna Tucci commented on gene: SLC16A2
Childhood onset hereditary spastic paraplegia 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)