Adult onset neurodegenerative disorder
Region: ISCA-37468-LossXp11.23 region (includes MAOA and MAOB) Loss
The required percent of overlap for this region has been changed from 80% to 60% following NHS Genomic Medicine Service approval.Created: 16 Mar 2022, 1:23 p.m. | Last Modified: 16 Mar 2022, 1:23 p.m.
Panel Version: 2.268
Comment on list classification: This region has been removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Removed as testing for this region is not achievable using currently available methodology.Created: 19 Aug 2020, 8:20 a.m. | Last Modified: 20 Aug 2020, 12:50 p.m.
Panel Version: 2.12
No rating for CNV region submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': NoCreated: 23 Jul 2019, 4:15 p.m. | Last Modified: 23 Jul 2019, 4:45 p.m.
Panel Version: 1.75
Red rating for CNV region submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.Created: 24 Apr 2019, 1:27 p.m.
Triplosensitivity Score for ISCA-37468-Loss was changed from None to . Required Overlap Percentage for ISCA-37468-Loss was changed from 80 to 60.
Tag curated_removed tag was added to Region: ISCA-37468-Loss.
Region: isca-37468-loss has been removed from the panel.
Triplosensitivity Score for ISCA-37468-Loss was changed from to None. Source London North GLH was removed from 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)
Source NHS GMS was added to Region: ISCA-37468-Loss.
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 23414621; 22365943; 20485326 to 22365943; 20485326; 23414621
Checked panel against panel constituents. Ready to promote to version 1
Region: ISCA-37468-Loss was added Region: ISCA-37468-Loss was added to Neurodegenerative disorders - adult onset. 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 23414621; 22365943; 20485326 Phenotypes for Region: ISCA-37468-Loss were set to hypotonia; exiting behavior; autistic features; eleveated serotonin levels; stereotypical hand movements; severe intellectual disability; short stature; episodes of sudden loss of muscle tone; lip-smacking