Paroxysmal central nervous system disorders
Gene: KCNJ2
Demoted KCNJ2 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 9 Sep 2019, 2:57 p.m. | Last Modified: 9 Sep 2019, 2:57 p.m.
Panel Version: 0.45
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
Andersen cardiodysrhythmic periodic paralysis (Andersen syndrome), 170390
Phenotypes for gene: KCNJ2 were changed from Andersen syndrome, 170390; Andersen cardiodysrhythmic periodic paralysis; Episodic weakness; Periodic paralysis; Hypokalemic Periodic Paralysis, Type 2 to Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222; Episodic weakness; Periodic paralysis
Gene: kcnj2 has been classified as Red List (Low Evidence).
Phenotypes for gene: KCNJ2 were changed from Andersen syndrome, 170390; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Periodic paralysis; Hypokalemic Periodic Paralysis, Type 2 to Andersen syndrome, 170390; Andersen cardiodysrhythmic periodic paralysis; Episodic weakness; Periodic paralysis; Hypokalemic Periodic Paralysis, Type 2
Phenotypes for gene: KCNJ2 were changed from Andersen syndrome, 170390; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Periodic paralysis; Andersen syndrome; Hypokalemic Periodic Paralysis, Type 2 to Andersen syndrome, 170390; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Periodic paralysis; Hypokalemic Periodic Paralysis, Type 2
Phenotypes for gene: KCNJ2 were changed from ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Periodic paralysis; Andersen syndrome; Hypokalemic Periodic Paralysis, Type 2 to Andersen syndrome, 170390; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Periodic paralysis; Andersen syndrome; Hypokalemic Periodic Paralysis, Type 2
Mode of inheritance for gene: KCNJ2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: kcnj2 has been classified as Red List (Low Evidence).
Source NHS GMS was added to KCNJ2.
Source London North GLH was added to KCNJ2.
Source Wessex and West Midlands GLH was added to KCNJ2.
Added phenotypes ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Periodic paralysis; Andersen syndrome; Hypokalemic Periodic Paralysis, Type 2 for gene: KCNJ2
gene: KCNJ2 was added gene: KCNJ2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNJ2 were set to 16217063 Phenotypes for gene: KCNJ2 were set to ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Periodic paralysis; Andersen syndrome; Hypokalemic Periodic Paralysis, Type 2