Dystonia - childhood onset
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: 1.14
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 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)
Checked against super panel made up of the panel constituents. Ready to promote to version 1
Region: ISCA-37468-Loss was added Region: ISCA-37468-Loss was added to Dystonia - childhood 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 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