Hereditary ataxia with onset in adulthood

STR: BEAN1_TGGAA

Green List (high evidence)

The repeat sequence TAAAA in BEAN1 is benign and seen in healthy controls. Although the TAAAA repeat is expanded in patients, it is the TGGAA repeat that is pathogenic repeats. The TGGAA repeat is not seen in healthy controls (PMID: 19878914). A further pathogenic repeat was also seen in two cases [TCAC (TGGAA)exp(TAGAA)exp(TAAAA TAGAA)exp] (PMID: 19878914).

Created: 9 Apr 2025, 12:08 p.m. | Last Modified: 9 Apr 2025, 12:08 p.m.

Panel Version: 7.15

BEAN1 transcribed from the forward strand.
BEAN1_TGGAA is on https://gnomad.broadinstitute.org/short-tandem-repeat/SAMD12?dataset=gnomad_r4
BEAN1_TGGAA is on https://stripy.org/database
BEAN1_TGGAA is DRAGON 4.02

The coordinates of the sequence repeats shown above were obtained from https://gnomad.broadinstitute.org/short-tandem-repeat/SAMD12?dataset=gnomad_r4 the coordinates were the same on DRAGON 4.02. The coordinates from https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 were 16:66490398-66490453 (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

Created: 9 Apr 2025, 11:57 a.m. | Last Modified: 9 Apr 2025, 11:57 a.m.

Panel Version: 7.15

Sources: Literature

Created: 7 Apr 2025, 4:28 p.m.

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

Phenotypes
Spinocerebellar ataxia 31, OMIM:117210; spinocerebellar ataxia type 31, MONDO:0007296

Publications

• 19878914