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Adult onset neurodegenerative disorder

Region: ISCA-37468-Loss

Xp11.23 region (includes MAOA and MAOB) Loss

No list
Chromosome: X
GRCh38 Position: 43654906-43882474
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss

2 reviews

Arina Puzriakova (Genomics England Curator)

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
Created: 19 Aug 2020, 8:20 a.m.
Last Modified: 20 Aug 2020, 12:50 p.m.
Panel version: 2.268

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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?': No
Created: 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.
Created: 24 Apr 2019, 1:27 p.m.
Last Modified: 23 Jul 2019, 4:45 p.m.
Panel version: 1.74

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
60%
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
  • Expert Review Removed
  • NHS GMS
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
Tags
curated_removed
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

16 Mar 2022, Gel status: 0

Changed Triplosensitivity Score, Changed Required Overlap Percentage

Arina Puzriakova (Genomics England Curator)

Triplosensitivity Score for ISCA-37468-Loss was changed from None to . Required Overlap Percentage for ISCA-37468-Loss was changed from 80 to 60.

1 Mar 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to Region: ISCA-37468-Loss.

19 Aug 2020, Gel status: 0

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Region: isca-37468-loss has been removed from the panel.

9 Sep 2019, Gel status: 3

Changed Triplosensitivity Score, Removed Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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)

24 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to Region: ISCA-37468-Loss.

24 Apr 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

25 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked panel against panel constituents. Ready to promote to version 1

18 Dec 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

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