Hereditary ataxia with onset in adulthood
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: 2.148
Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this CNV RedCreated: 1 Aug 2019, 1:42 p.m. | Last Modified: 1 Aug 2019, 1:42 p.m.
Panel Version: 1.183
This panel was initially created as a merge of genomic entities form the following Rare Disease 100K two panels: Hereditary ataxia v1.148 and Brain channelopathy v1.46. This region (rated Green) comes from the Brain channelopathy v1.46 panel, and will need to discussed for inclusion on this panel by the Neurology Test Group in July 2019.Created: 19 Jun 2019, 11:02 a.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of GMS Neurology specialist test group. Comment: Doesn't seem appropriate for this panel. Do you report variants in this gene as part of your current diagnostic practice? NoCreated: 14 Apr 2019, 4:05 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.
Triplosensitivity Score for ISCA-37468-Loss was changed from to None. Source Wessex and West Midlands GLH was removed from Region: ISCA-37468-Loss. Source Brain channelopathy v1.46 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)
Region: isca-37468-loss has been classified as Red List (Low Evidence).
Source NHS GMS was added to Region: ISCA-37468-Loss.
Source Wessex and West Midlands 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
Checked panel against panel constituents. Ready to promote to version 1.
Region: ISCA-37468-Loss was added Region: ISCA-37468-Loss was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,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