| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Paroxysmal central nervous system disorders v0.150 | SCN4A | Rebecca Foulger Marked gene: SCN4A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.150 | SCN4A | Rebecca Foulger Gene: scn4a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.70 | SCN4A | Rebecca Foulger Mode of inheritance for gene: SCN4A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.69 | SCN4A | Rebecca Foulger Classified gene: SCN4A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.69 | SCN4A | Rebecca Foulger Added comment: Comment on list classification: Demoted SCN4A 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 v0.69 | SCN4A | Rebecca Foulger Gene: scn4a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.27 | SCN4A | Rebecca Foulger Source NHS GMS was added to SCN4A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.26 | SCN4A | Rebecca Foulger commented on gene: SCN4A: 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 | SCN4A | James Polke reviewed gene: SCN4A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.24 | SCN4A | Rebecca Foulger Source London North GLH was added to SCN4A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.23 | SCN4A | Rebecca Foulger reviewed gene: SCN4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.22 | SCN4A | Tracy Lester reviewed gene: SCN4A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Thyrotoxic Periodic Paralysis, Susceptibility To, 2, Hypokalemic periodic paralysis, type 2, 613, Potassium-Aggravated Myotonia, Hyperkalemic periodic paralysis, type 2, 170500, Myasthenic syndrome, acetazolamide-responsive, 614198, Hyperkalemic Periodic Paralysis, Episodic weakness, Myotonia, Hypokalemic Periodic Paralysis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.21 | SCN4A | Rebecca Foulger Source Wessex and West Midlands GLH was added to SCN4A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.3 | SCN4A | Ellen McDonagh Added phenotypes Thyrotoxic Periodic Paralysis, Susceptibility To, 2; Hypokalemic periodic paralysis, type 2, 613; Potassium-Aggravated Myotonia; Hyperkalemic Periodic Paralysis; Myasthenic syndrome, acetazolamide-responsive, 614198; Hyperkalemic periodic paralysis, type 2, 170500; Episodic weakness; Myotonia; Hypokalemic Periodic Paralysis for gene: SCN4A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.2 | SCN4A |
Ellen McDonagh gene: SCN4A was added gene: SCN4A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN4A were set to 17395131; 15534250 Phenotypes for gene: SCN4A were set to Thyrotoxic Periodic Paralysis, Susceptibility To, 2; Hypokalemic periodic paralysis, type 2, 613; Potassium-Aggravated Myotonia; Hyperkalemic Periodic Paralysis; Myasthenic syndrome, acetazolamide-responsive, 614198; Hyperkalemic periodic paralysis, type 2, 170500; Episodic weakness; Myotonia; Hypokalemic Periodic Paralysis |
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