Hereditary ataxia with onset in adulthood

STR: ATXN8OS_CTG

Green List (high evidence)

The numbers of ATXN8OS_CTG required for pathogenicity given by https://stripy.org/database are: 2-37 for normal, 38-79 for intermediate and ≥80 for pathogenic and https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 gives the repeats as follows: ≤ 50 for normal, 38 - 79 for intermediate and ≥ 71 for pathogenic.

Created: 15 Apr 2025, 4:07 p.m. | Last Modified: 15 Apr 2025, 4:07 p.m.

Panel Version: 7.20

ATXN8OS transcribed from the forward strand.

ATXN8OS_CTG is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4

ATXN8OS_CTG is on https://stripy.org/database

ATXN8OS_CTG is on DRAGON 4.02.

The coordinates of the sequence repeats shown above were obtained from DRAGON 4.02, https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 and https://stripy.org/database were 4:39348424-39348485 (hg38)
The non-pathogenic and pathogenic ranges of the sequence repeats shown above were obtained from: https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4

There is enough evidence for this STR to be green on this panel.

This STR has not been approved by NHS STR working group and is not NGS Not Validated
Sources: Literature

Created: 15 Apr 2025, 3:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spinocerebellar ataxia 8, OMIM:608768; spinocerebellar ataxia type 8, MONDO:0012116

Publications

• 16804541
• 10192387