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Ataxia - adult onset
STR: SCA37

Chromosome: 1
GRCh37 Position: 57832716-57832797
GRCh38 Position: 57367044-57367121
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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

NC_000001.10:g.57832716_57832797ins[(ATTTT)60-79(ATTTC)31-75(ATTTT)58-90]
Located in a 5'UTR intron, flanked by (ATTTT)n on both sides
Non-pathogenic allele: (ATTTT)7–400
Pathogenic allele: [(ATTTT)60–79(ATTTC)31–75(ATTTT)58–90]
Sources: Literature
Created: 28 Aug 2020, 2:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 37 MIM#615945

Publications

Clinically Relevant

Interruptions in the repeated sequence are reported as part of standard diagnostic practise

Created: 28 Aug 2020, 2:30 a.m.

Panel version: 0.100

Details

Name

SCA37

Chromosome

GRCh37 Coordinates

57832716-57832797

GRCh38 Coordinates

57367044-57367121

Repeated Sequence

ATTTC

Normal Number of Repeats: <

Pathogenic Number of Repeats: = or >

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Literature

Phenotypes

Spinocerebellar ataxia 37 MIM#615945

Tags

STR

OMIM

603448

Clinvar variants

Variants in DAB1

Penetrance

None

Publications

History Filter Activity

28 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: sca37 has been classified as Green List (High Evidence).

28 Aug 2020, Gel status: 1

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