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| Paroxysmal central nervous system disorders v1.10 | KCNJ2 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.151 | KCNJ2 | Rebecca Foulger Marked gene: KCNJ2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.151 | KCNJ2 | Rebecca Foulger Gene: kcnj2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.148 | KCNJ2 | Rebecca Foulger 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.49 | KCNJ2 | Rebecca Foulger 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.48 | KCNJ2 | Rebecca Foulger 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.47 | KCNJ2 | Rebecca Foulger Mode of inheritance for gene: KCNJ2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.46 | KCNJ2 | Rebecca Foulger Classified gene: KCNJ2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.46 | KCNJ2 | Rebecca Foulger Gene: kcnj2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.45 | KCNJ2 | Rebecca Foulger commented on gene: KCNJ2: Demoted KCNJ2 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 v0.27 | KCNJ2 | Rebecca Foulger Source NHS GMS was added to KCNJ2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.26 | KCNJ2 | Rebecca Foulger commented on gene: KCNJ2: 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 | KCNJ2 | James Polke reviewed gene: KCNJ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.24 | KCNJ2 | Rebecca Foulger Source London North GLH was added to KCNJ2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.23 | KCNJ2 | Rebecca Foulger reviewed gene: KCNJ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.22 | KCNJ2 | Tracy Lester reviewed gene: KCNJ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Andersen cardiodysrhythmic periodic paralysis (Andersen syndrome), 170390; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.21 | KCNJ2 | Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNJ2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.3 | KCNJ2 | Ellen McDonagh Added phenotypes ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Periodic paralysis; Andersen syndrome; Hypokalemic Periodic Paralysis, Type 2 for gene: KCNJ2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.2 | KCNJ2 |
Ellen McDonagh 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 |
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