Genes in panel
Prev Next

Hereditary ataxia - adult onset

Region: ISCA-37468-Loss

Xp11.23 region (includes MAOA and MAOB) Loss

Red List (low 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: 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: 2.148

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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 Red
Created: 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? No
Created: 14 Apr 2019, 4:05 p.m.

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
  • 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
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

16 Mar 2022, Gel status: 1

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.

9 Sep 2019, Gel status: 1

Changed Triplosensitivity Score, Removed Source, Removed Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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)

1 Aug 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Region: isca-37468-loss has been classified as Red List (Low Evidence).

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

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

14 Apr 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

9 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.

15 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 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