| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Adult onset dystonia, chorea or related movement disorder v1.167 | ISCA-37468-Loss | Arina Puzriakova commented on Region: ISCA-37468-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.167 | ISCA-37468-Loss |
Arina Puzriakova Triplosensitivity Score for ISCA-37468-Loss was changed from None to . Required Overlap Percentage for ISCA-37468-Loss was changed from 80 to 60. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.106 | ISCA-37468-Loss |
Louise Daugherty Triplosensitivity Score for ISCA-37468-Loss was changed from to None. Source London North GLH was removed from Region: ISCA-37468-Loss. Source Other 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) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.97 | ISCA-37468-Loss |
Louise Daugherty changed review comment from: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xls : 66 genes that LNGLH classified as red but which are green on the 100K panel. As you can see the majority are classified red due to their age of onset. There are a few which we felt did not fit the phenotype and 3 (which I have highlighted amber) that perhaps warrant more discussion. Comment on list classification for the Region ISCA-37468-Loss : Red: MAOA/B deletion syndrome (stereotypical hand movements); to: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xls : 66 genes that LNGLH classified as red but which are green on the 100K panel. As you can see the majority are classified red due to their age of onset. Comment on list classification for the Region ISCA-37468-Loss : Red: MAOA/B deletion syndrome (stereotypical hand movements) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.97 | ISCA-37468-Loss |
Louise Daugherty changed review comment from: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xls : 66 genes that LNGLH classified as red but which are green on the 100K panel. As you can see the majority are classified red due to their age of onset. There are a few which we felt did not fit the phenotype and 3 (which I have highlighted amber) that perhaps warrant more discussion. Comment on list classification for the Region ISCA-37468-Loss : Red: MAOA/B deletion syndrome (stereotypical hand movements); to: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xls : 66 genes that LNGLH classified as red but which are green on the 100K panel. As you can see the majority are classified red due to their age of onset. There are a few which we felt did not fit the phenotype and 3 (which I have highlighted amber) that perhaps warrant more discussion. Comment on list classification for the Region ISCA-37468-Loss : Red: MAOA/B deletion syndrome (stereotypical hand movements) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.97 | ISCA-37468-Loss |
Louise Daugherty changed review comment from: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xls : 66 genes that LNGLH classified as red but which are green on the 100K panel. As you can see the majority are classified red due to their age of onset. There are a few which we felt did not fit the phenotype and 3 (which I have highlighted amber) that perhaps warrant more discussion. Comment on list classification for the Region ISCA-37468-Loss : MAOA/B deletion syndrome (stereotypical hand movements); to: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xls : 66 genes that LNGLH classified as red but which are green on the 100K panel. As you can see the majority are classified red due to their age of onset. There are a few which we felt did not fit the phenotype and 3 (which I have highlighted amber) that perhaps warrant more discussion. Comment on list classification for the Region ISCA-37468-Loss : Red: MAOA/B deletion syndrome (stereotypical hand movements) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.97 | ISCA-37468-Loss |
Louise Daugherty changed review comment from: Further follow up review by Robyn Labrum after webex call 26th July 2019 R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xls : 66 genes that LNGLH classified as red but which are green on the 100K panel. As you can see the majority are classified red due to their age of onset. There are a few which we felt did not fit the phenotype and 3 (which I have highlighted amber) that perhaps warrant more discussion. Comment on list classification for the Region ISCA-37468-Loss : MAOA/B deletion syndrome (stereotypical hand movements); to: Further follow up review by Robyn Labrum (London North GLH) after webex call 26th July 2019 R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xls : 66 genes that LNGLH classified as red but which are green on the 100K panel. As you can see the majority are classified red due to their age of onset. There are a few which we felt did not fit the phenotype and 3 (which I have highlighted amber) that perhaps warrant more discussion. Comment on list classification for the Region ISCA-37468-Loss : MAOA/B deletion syndrome (stereotypical hand movements) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.97 | ISCA-37468-Loss |
Louise Daugherty commented on Region: ISCA-37468-Loss: Further follow up review by Robyn Labrum after webex call 26th July 2019 R56 Adult onset dystonia, chorea or related movement disorder Panel - RED genes from LNGLH_30.07.19.xls : 66 genes that LNGLH classified as red but which are green on the 100K panel. As you can see the majority are classified red due to their age of onset. There are a few which we felt did not fit the phenotype and 3 (which I have highlighted amber) that perhaps warrant more discussion. Comment on list classification for the Region ISCA-37468-Loss : MAOA/B deletion syndrome (stereotypical hand movements) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.97 | ISCA-37468-Loss | Louise Daugherty Classified Region: ISCA-37468-Loss as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.97 | ISCA-37468-Loss | Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Red. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this CNV Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.97 | ISCA-37468-Loss | Louise Daugherty Region: isca-37468-loss has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.90 | ISCA-37468-Loss | Louise Daugherty changed review comment from: Region rating (red) submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : suggested by Huw and Raquel.; to: Region rating (red) submitted by James Polke unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : suggested by Huw and Raquel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.57 | ISCA-37468-Loss |
Louise Daugherty Source London North GLH was added to Region: ISCA-37468-Loss. Added phenotypes hypotonia; episodes of sudden loss of muscle tone; short stature; severe intellectual disability; autistic features; eleveated serotonin levels; exiting behavior; lip-smacking; stereotypical hand movements for Region: ISCA-37468-Loss Publications for Region: ISCA-37468-Loss were changed from 20485326; 22365943; 23414621 to 23414621; 20485326; 22365943 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.56 | ISCA-37468-Loss | Louise Daugherty reviewed Region: ISCA-37468-Loss: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.2 | ISCA-37468-Loss |
Ellen McDonagh Region: ISCA-37468-Loss was added Region: ISCA-37468-Loss was added to Adult onset movement disorder. 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||