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Paroxysmal central nervous system disorders v0.150 SPTLC1 Rebecca Foulger Marked gene: SPTLC1 as ready
Paroxysmal central nervous system disorders v0.150 SPTLC1 Rebecca Foulger Gene: sptlc1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.75 SPTLC1 Rebecca Foulger Classified gene: SPTLC1 as Red List (low evidence)
Paroxysmal central nervous system disorders v0.75 SPTLC1 Rebecca Foulger Added comment: Comment on list classification: Demoted SPTLC1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Paroxysmal central nervous system disorders v0.75 SPTLC1 Rebecca Foulger Gene: sptlc1 has been classified as Red List (Low Evidence).
Paroxysmal central nervous system disorders v0.27 SPTLC1 Rebecca Foulger Source NHS GMS was added to SPTLC1.
Paroxysmal central nervous system disorders v0.26 SPTLC1 Rebecca Foulger commented on gene: SPTLC1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.25 SPTLC1 James Polke reviewed gene: SPTLC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.24 SPTLC1 Rebecca Foulger Source London North GLH was added to SPTLC1.
Paroxysmal central nervous system disorders v0.23 SPTLC1 Rebecca Foulger reviewed gene: SPTLC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.22 SPTLC1 Tracy Lester reviewed gene: SPTLC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: HSAN 1, Neuropathy, hereditary sensory and autonomic, type IA, 162400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.21 SPTLC1 Rebecca Foulger Source Wessex and West Midlands GLH was added to SPTLC1.
Paroxysmal central nervous system disorders v0.3 SPTLC1 Ellen McDonagh Added phenotypes HSAN 1; Neuropathy, hereditary sensory and autonomic, type IA, 162400; Hereditary sensory neuropathy type IA for gene: SPTLC1
Paroxysmal central nervous system disorders v0.2 SPTLC1 Ellen McDonagh gene: SPTLC1 was added
gene: SPTLC1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPTLC1 were set to 11242114; 15037712; 11242106
Phenotypes for gene: SPTLC1 were set to HSAN 1; Neuropathy, hereditary sensory and autonomic, type IA, 162400; Hereditary sensory neuropathy type IA