Paroxysmal central nervous system disorders
Gene: CLCN1
Comment on list classification: Demoted CLCN1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 9 Sep 2019, 2:45 p.m. | Last Modified: 9 Sep 2019, 2:45 p.m.
Panel Version: 0.34
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myotonia congenita, recessive, 255700; Myotonia congenita, dominant, 160800
Gene: clcn1 has been classified as Red List (Low Evidence).
Gene: clcn1 has been classified as Red List (Low Evidence).
Source NHS GMS was added to CLCN1.
Source London North GLH was added to CLCN1.
Source Wessex and West Midlands GLH was added to CLCN1.
Added phenotypes Myotonia levior, recessive; Myotonia congenita, recessive, 255700; Hyperkalemic Periodic Paralysis; Myotonia Congenita; Myotonia; Myotonia congenita, dominant, 160800 for gene: CLCN1
gene: CLCN1 was added gene: CLCN1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: CLCN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CLCN1 were set to 11840191; 18337100; 22649220 Phenotypes for gene: CLCN1 were set to Myotonia levior, recessive; Myotonia congenita, recessive, 255700; Hyperkalemic Periodic Paralysis; Myotonia Congenita; Myotonia; Myotonia congenita, dominant, 160800