Hereditary ataxia

Gene: DAB1

Red List (low evidence)

DAB1 (DAB1, reelin adaptor protein)
EnsemblGeneIds (GRCh38): ENSG00000173406
EnsemblGeneIds (GRCh37): ENSG00000173406
OMIM: 603448, Gene2Phenotype
DAB1 is in 5 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM, not in G2P. At least one variant reported in six Portuguese families with shared haplotype
Created: 5 Sep 2017, 2:02 p.m.

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

Newly discovered repeat expansion in three families with autosomal dominant pure cerebellar ataxia. The expansion is located in the 5'UTR of the DAB1 gene, and comprises a (ATTTC)n
insertion within the simple ATTTT/AAAAT repeat at nucleotide 57,832,716 on chromosome 1 (hg19). The pathological (ATTTC)n insertion, ranges from 31 to 75 repeats and is always flanked by (ATTTT)n tracts larger than 58 repeat. Of note, the normal alleles do not contain the pathological ATTTC repeat insertion and comprised 7–400 ATTTT repeat (most frequencty ~30 repeats).
Created: 7 Jul 2017, 9:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 37 615945

Publications

  • Seixas et al., 2017, AJHG (does not have a PMID yet)

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Spinocerebellar ataxia 37 615945
Tags
nucleotide-repeat-expansion founder-effect currently-ngs-unreportable
OMIM
603448
Clinvar variants
Variants in DAB1
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

5 Sep 2017, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for DAB1 were set to 28686858

7 Jul 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

DAB1 was added to Hereditary ataxiapanel. Sources: Literature

7 Jul 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

DAB1 was created by arianna