Paroxysmal central nervous system disorders
Gene: SCN4A
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.Created: 9 Sep 2019, 3:24 p.m. | Last Modified: 9 Sep 2019, 3:24 p.m.
Panel Version: 0.69
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.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Not a CNS disorderCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Gene: scn4a has been classified as Red List (Low Evidence).
Mode of inheritance for gene: SCN4A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: scn4a has been classified as Red List (Low Evidence).
Source NHS GMS was added to SCN4A.
Source London North GLH was added to SCN4A.
Source Wessex and West Midlands GLH was added to SCN4A.
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
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