Hereditary ataxia with onset in adulthood
Region: ISCA-37468-Loss
Xp11.23 region (includes MAOA and MAOB) Loss

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

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.

Created: 14 Apr 2019, 4:05 p.m.

Panel version: 1.155

Details

ISCA ID

ISCA-37468-Loss

ISCA Region Name

Xp11.23 region (includes MAOA and MAOB) Loss

Chromosome

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