| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Paroxysmal central nervous system disorders v0.148 | KCNJ5 | Rebecca Foulger Marked gene: KCNJ5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.148 | KCNJ5 | Rebecca Foulger Gene: kcnj5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.120 | KCNJ5 | Rebecca Foulger changed review comment from: Comment on list classification: Demoted KCNJ5 from Amber to Red following Red re-reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.118 | KCNJ5 | Rebecca Foulger Phenotypes for gene: KCNJ5 were changed from to Hyperaldosteronism, familial, type III, 613677; Long QT syndrome 13, 613485 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.117 | KCNJ5 | Rebecca Foulger Mode of inheritance for gene: KCNJ5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.116 | KCNJ5 | Rebecca Foulger Classified gene: KCNJ5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.116 | KCNJ5 | Rebecca Foulger Added comment: Comment on list classification: Demoted KCNJ5 from Amber to Red following Red re-reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.116 | KCNJ5 | Rebecca Foulger Gene: kcnj5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.98 | KCNJ5 | Rebecca Foulger commented on gene: KCNJ5: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.97 | KCNJ5 | Robyn Labrum reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.96 | KCNJ5 | Rebecca Foulger commented on gene: KCNJ5: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.95 | KCNJ5 | Penny Clouston reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.27 | KCNJ5 | Rebecca Foulger Source NHS GMS was added to KCNJ5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.26 | KCNJ5 | Rebecca Foulger commented on gene: KCNJ5: 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 | KCNJ5 | James Polke reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.24 | KCNJ5 | Rebecca Foulger Source London North GLH was added to KCNJ5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.23 | KCNJ5 | Rebecca Foulger reviewed gene: KCNJ5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.22 | KCNJ5 | Tracy Lester reviewed gene: KCNJ5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperaldosteronism, familial, type III, 613677, Long QT syndrome 13, 613485; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.21 | KCNJ5 | Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNJ5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.2 | KCNJ5 |
Ellen McDonagh 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||