Paroxysmal central nervous system disorders
Region: ISCA-37468-LossXp11.23 region (includes MAOA and MAOB) Loss
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: 1.41
Rebecca Foulger (Genomics England curator)
Comment on list classification: Demoted CNV from Green to Red based on GLH review and a recent comment (September 30th 2019) from Robyn Labrum (University College London Hospitals) collated on behalf of London North GLH for the GMS Neurology specialist test group: Inappropriate phenotype. Better suited to ataxia panels, epilepsy or muscular dystrophy panel.Created: 1 Oct 2019, 12:34 p.m. | Last Modified: 1 Oct 2019, 12:34 p.m.
Panel Version: 0.167
Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of entities was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Symbol submitted: ISCA-37468-Loss. Suggested rating: Red; Comments provided: None.Created: 23 Sep 2019, 10:18 a.m. | Last Modified: 23 Sep 2019, 10:18 a.m.
Panel Version: 0.94
Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of entities was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Symbol submitted: ISCA-37468-Loss. Suggested rating: Red; Comments provided: phenotype severe and complicated, also episodes of sudden loss of muscle tone may occur. It may be better on another panel? Intellectual disability?.Created: 23 Sep 2019, 9:53 a.m. | Last Modified: 23 Sep 2019, 9:54 a.m.
Panel Version: 0.94
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London), collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Symbol submitted: ISCA-37468-Loss; Suggested initial gene rating: Red; Evidence: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 2 Sep 2019, 3:08 p.m. | Last Modified: 2 Sep 2019, 3:45 p.m.
Panel Version: 0.28
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 Red
- London North GLH
- NHS GMS
- 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
Changed Required Overlap Percentage
Arina Puzriakova (Genomics England Curator)Required Overlap Percentage for ISCA-37468-Loss was changed from 80 to 60.
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Region: isca-37468-loss has been classified as Red List (Low Evidence).
Changed Triplosensitivity Score, Added New Source
Rebecca Foulger (Genomics England curator)Triplosensitivity Score for ISCA-37468-Loss was changed from None to . Source London North GLH was added to Region: ISCA-37468-Loss.
Changed Triplosensitivity Score, Removed Source, Added New Source, Set mode of inheritance
Rebecca Foulger (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. Source NHS GMS 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)
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to Region: ISCA-37468-Loss.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)Region: ISCA-37468-Loss was added Region: ISCA-37468-Loss was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. 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