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Paroxysmal central nervous system disorders v1.44 | ELP1 | Arina Puzriakova Phenotypes for gene: ELP1 were changed from Neuropathy, Hereditary Sensory and Autonomic, Type III; Familial dysautonomia; Dysautonomia, familial, 223900 to Dysautonomia, familial, OMIM:223900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.141 | ELP1 | Rebecca Foulger Marked gene: ELP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.141 | ELP1 | Rebecca Foulger Gene: elp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.141 | ELP1 | Rebecca Foulger Phenotypes for gene: ELP1 were changed from NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Familial dysautonomia; Dysautonomia, familial, 223900 to Neuropathy, Hereditary Sensory and Autonomic, Type III; Familial dysautonomia; Dysautonomia, familial, 223900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.43 | ELP1 | Rebecca Foulger Classified gene: ELP1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.43 | ELP1 | Rebecca Foulger Added comment: Comment on list classification: Demoted ELP1 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 v0.43 | ELP1 | Rebecca Foulger Gene: elp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.27 | ELP1 | Rebecca Foulger Source NHS GMS was added to ELP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.26 | ELP1 | Rebecca Foulger commented on gene: ELP1: 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 | ELP1 | James Polke reviewed gene: ELP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.24 | ELP1 | Rebecca Foulger Source London North GLH was added to ELP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.23 | ELP1 | Rebecca Foulger reviewed gene: ELP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.22 | ELP1 | Tracy Lester reviewed gene: ELP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, Hereditary Sensory and Autonomic, Type III (also known as Dysautonomia, familial), 223900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.21 | ELP1 | Rebecca Foulger Source Wessex and West Midlands GLH was added to ELP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.3 | ELP1 | Ellen McDonagh Added phenotypes NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Familial dysautonomia; Dysautonomia, familial, 223900 for gene: ELP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.2 | ELP1 |
Ellen McDonagh gene: ELP1 was added gene: ELP1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELP1 were set to 11179021; 11179008; 17985250; 8102296 Phenotypes for gene: ELP1 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Familial dysautonomia; Dysautonomia, familial, 223900 |