Paroxysmal central nervous system disorders
Gene: KCNJ5
? Better on a cardiac or muscle panel?Created: 23 Sep 2019, 3:56 p.m. | Last Modified: 23 Sep 2019, 3:56 p.m.
Panel Version: 0.97
Comment on list classification: Demoted KCNJ5 from Amber to Red following Red updated reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 23 Sep 2019, 4:38 p.m. | Last Modified: 24 Sep 2019, 10:25 a.m.
Panel Version: 0.120
Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Red.Created: 23 Sep 2019, 3:57 p.m. | Last Modified: 23 Sep 2019, 3:57 p.m.
Panel Version: 0.98
Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Red.Created: 23 Sep 2019, 12:53 p.m. | Last Modified: 23 Sep 2019, 12:53 p.m.
Panel Version: 0.96
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
Phenotypes not appropriate/relevant?Created: 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
Hyperaldosteronism, familial, type III, 613677; Long QT syndrome 13, 613485
Gene: kcnj5 has been classified as Red List (Low Evidence).
Phenotypes for gene: KCNJ5 were changed from to Hyperaldosteronism, familial, type III, 613677; Long QT syndrome 13, 613485
Mode of inheritance for gene: KCNJ5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: kcnj5 has been classified as Red List (Low Evidence).
Source NHS GMS was added to KCNJ5.
Source London North GLH was added to KCNJ5.
Source Wessex and West Midlands GLH was added to KCNJ5.
gene: KCNJ5 was added gene: KCNJ5 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Amber Mode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted