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Callosome

STR: SCA37

Green List (high evidence)

Chromosome: 1
GRCh37 Position: 57832716-57832797
GRCh38 Position: 57367044-57367121
Repeated Sequence: ATTTC
Normal Number of Repeats: < or = 0
Pathogenic Number of Repeats: = or > 31

DAB1 (DAB1, reelin adaptor protein)
EnsemblGeneIds (GRCh38): ENSG00000173406
EnsemblGeneIds (GRCh37): ENSG00000173406
OMIM: 603448, Gene2Phenotype
DAB1 is in 6 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. RNA toxicity is the mechanism of disease.
Non-pathogenic allele: (ATTTT)7–400
Pathogenic allele: [(ATTTT)60–79(ATTTC)31–75(ATTTT)58–90]
Sources: Expert list
Created: 28 Aug 2021, 11:38 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

Details

Name
SCA37
Chromosome
1
GRCh37 Coordinates
57832716-57832797
GRCh38 Coordinates
57367044-57367121
Repeated Sequence
ATTTC
Normal Number of Repeats: < or =
0
Pathogenic Number of Repeats: = or >
31
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 37 MIM#615945
OMIM
603448
Clinvar variants
Variants in DAB1
Penetrance
None
Publications

History Filter Activity

28 Aug 2021, 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 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

STR: SCA37 was added STR: SCA37 was added to Callosome. Sources: Expert list Mode of inheritance for STR: SCA37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: SCA37 were set to 28686858; 31145571 Phenotypes for STR: SCA37 were set to Spinocerebellar ataxia 37 MIM#615945 Review for STR: SCA37 was set to GREEN STR: SCA37 was marked as clinically relevant