Early onset or syndromic epilepsy

STR: STARD7_ATTTC

Green List (high evidence)

A long stretch ATTTC repeats is present in conjunction with ATTTT repeats in the intron 1 in the STARD7 gene in patients with OMIM:607876 (Corbett et al. 2019 PMID:31664034). In affected individuals the pathogenic configuration was defined as: (ATTTC)exp(ATTTT )exp. None of the control samples had any repeats of the pathogenic ATTTC motif (PMID:31664034).

Created: 2 Apr 2025, 4:44 p.m. | Last Modified: 2 Apr 2025, 4:44 p.m.

Panel Version: 7.86

STARD7 transcribed from the reverse strand, which means that the repeated sequence is the reverse compliment of the forward strand sequence.

STARD7_ATTTC is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4

STARD7_ATTTC is on https://stripy.org/database

STARD7_ATTTT is on DRAGON 4.02.

The coordinates of the sequence repeats shown above were the same on DRAGON 4.02, https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 and https://stripy.org/database
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 and https://stripy.org/database

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: 2 Apr 2025, 4:28 p.m.

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

Phenotypes
Epilepsy, familial adult myoclonic, 2, OMIM:607876; epilepsy, familial adult myoclonic, 2, MONDO:0011930

Publications

• 31664034