Dystonia - childhood onset

Region: ISCA-37468-Loss

Xp11.23 region (includes MAOA and MAOB) Loss

Green List (high evidence)

Chromosome: X
GRCh38 Position: 43654906-43882474
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss

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Details

ISCA ID
ISCA-37468-Loss
ISCA Region Name
Xp11.23 region (includes MAOA and MAOB) Loss
Chromosome
X
GRCh38 Coordinates
43654906-43882474
Haploinsufficiency Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score
Required percent of overlap
80%
Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Other
  • Expert Review Green
Phenotypes
  • 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
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

9 Sep 2019, Gel status: 3

Changed Triplosensitivity Score, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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)

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

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