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Paroxysmal central nervous system disorders v1.41 | ISCA-37468-Loss | Arina Puzriakova commented on Region: ISCA-37468-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v1.41 | ISCA-37468-Loss | Arina Puzriakova Required Overlap Percentage for ISCA-37468-Loss was changed from 80 to 60. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.167 | ISCA-37468-Loss | Rebecca Foulger Classified Region: ISCA-37468-Loss as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.167 | ISCA-37468-Loss | Rebecca Foulger Added comment: Comment on list classification: Demoted CNV from Green to Red based on GLH review and a recent comment (September 30th 2019) from Robyn Labrum (University College London Hospitals) collated on behalf of London North GLH for the GMS Neurology specialist test group: Inappropriate phenotype. Better suited to ataxia panels, epilepsy or muscular dystrophy panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.167 | ISCA-37468-Loss | Rebecca Foulger Region: isca-37468-loss has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.94 | ISCA-37468-Loss | Rebecca Foulger commented on Region: ISCA-37468-Loss: 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 entities was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Symbol submitted: ISCA-37468-Loss. Suggested rating: Red; Comments provided: None. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.94 | ISCA-37468-Loss | Rebecca Foulger changed review comment from: 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 entities was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Red; Comments provided: phenotype severe and complicated, also episodes of sudden loss of muscle tone may occur. It may be better on another panel? Intellectual disability?.; to: 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 entities was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Symbol submitted: ISCA-37468-Loss. Suggested rating: Red; Comments provided: phenotype severe and complicated, also episodes of sudden loss of muscle tone may occur. It may be better on another panel? Intellectual disability?. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.94 | ISCA-37468-Loss | Rebecca Foulger commented on Region: ISCA-37468-Loss: 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 entities was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Red; Comments provided: phenotype severe and complicated, also episodes of sudden loss of muscle tone may occur. It may be better on another panel? Intellectual disability?. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.90 | ISCA-37468-Loss |
Rebecca Foulger Triplosensitivity Score for ISCA-37468-Loss was changed from None to . Source London North GLH was added to Region: ISCA-37468-Loss. |
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Paroxysmal central nervous system disorders v0.28 | ISCA-37468-Loss | Rebecca Foulger changed review comment from: 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. Symbol submitted: ISCA-37468-Loss; Suggested initial gene rating: Red; Evidence: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.; to: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London), collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Symbol submitted: ISCA-37468-Loss; Suggested initial gene rating: Red; Evidence: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.28 | ISCA-37468-Loss |
Rebecca Foulger Triplosensitivity Score for ISCA-37468-Loss was changed from to None. Source London North GLH was removed from Region: ISCA-37468-Loss. Source NHS GMS was added to Region: ISCA-37468-Loss. Model of inheritance for Region: ISCA-37468-Loss was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Paroxysmal central nervous system disorders v0.27 | ISCA-37468-Loss | Rebecca Foulger reviewed Region: ISCA-37468-Loss: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.24 | ISCA-37468-Loss | Rebecca Foulger Source London North GLH was added to Region: ISCA-37468-Loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paroxysmal central nervous system disorders v0.2 | ISCA-37468-Loss |
Ellen McDonagh Region: ISCA-37468-Loss was added Region: ISCA-37468-Loss was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37468-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females) Publications for Region: ISCA-37468-Loss were set to 20485326; 22365943; 23414621 Phenotypes for Region: ISCA-37468-Loss were set to short stature; severe intellectual disability; lip-smacking; exiting behavior; autistic features; hypotonia; stereotypical hand movements; eleveated serotonin levels; episodes of sudden loss of muscle tone |