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Hereditary ataxia with onset in adulthood

STR: DAB1_ATTTC

Red List (low evidence)
Chromosome: 1
GRCh38 Position: 57367043-57367118
Repeated Sequence: ATTTC
Normal Number of Repeats: < 0
Pathogenic Number of Repeats: = or > 31

DAB1 (DAB1, reelin adaptor protein)
EnsemblGeneIds (GRCh38): ENSG00000173406
EnsemblGeneIds (GRCh37): ENSG00000173406
OMIM: 603448, Gene2Phenotype
DAB1 is in 0 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

This is a Nested STR. Pathogenicity is caused by the inclusion of ATTTC repeat (PMID: 29939198; 28686858) within the reference ATTTT repeat. PMID: 28686858 outlined that the pathogenic confirmation of repeats was: [(ATTTT)60–79(ATTTC)31–75(ATTTT)58–90].
Note that DRAGEN 4.02 lists DAB1_ATTTT and not the ATTTC repeat.
Created: 15 Apr 2025, 10:44 a.m. | Last Modified: 15 Apr 2025, 10:53 a.m.
Panel Version: 7.17
DAB1 is transcribed from the reverse strand, which means that the repeated sequence is the reverse compliment of the forward strand sequence.

DAB1_ATTTC is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4

DAB1_ATTTC is on https://stripy.org/database

DAB1_ATTTT is on DRAGON 4.02.

The coordinates of the sequence repeats shown above were the same on:
https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 https://stripy.org/database were 8:118366815-118366913 (hg38) and DRAGON 4.02

The non-pathogenic and pathogenic ranges of the sequence repeats shown above were obtained from: 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: 15 Apr 2025, 10:38 a.m.

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

Phenotypes
Spinocerebellar ataxia 37, OMIM: 615945

Publications

Created: 15 Apr 2025, 10:38 a.m.
Last Modified: 15 Apr 2025, 10:53 a.m.
Panel version: 7.17

Details

Name
DAB1_ATTTC
Chromosome
1
GRCh38 Coordinates
57367043-57367118
Repeated Sequence
ATTTC
Normal Number of Repeats: <
0
Pathogenic Number of Repeats: = or >
31
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Spinocerebellar ataxia 37, OMIM: 615945
Tags
STR NGS Not Validated
OMIM
603448
Clinvar variants
Variants in DAB1
Penetrance
None
Publications

History Filter Activity

15 Apr 2025, Gel status: 1

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag nested STR was removed from STR: DAB1_ATTTC.

15 Apr 2025, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag nested STR tag was added to STR: DAB1_ATTTC.

15 Apr 2025, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

STR: DAB1_ATTTC was added STR: DAB1_ATTTC was added to Hereditary ataxia with onset in adulthood. Sources: Literature STR, NGS Not Validated tags were added to STR: DAB1_ATTTC. Mode of inheritance for STR: DAB1_ATTTC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for STR: DAB1_ATTTC were set to 29939198; 28686858 Phenotypes for STR: DAB1_ATTTC were set to Spinocerebellar ataxia 37, OMIM: 615945 Review for STR: DAB1_ATTTC was set to GREEN