Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: DAB1

Red List (low evidence)

DAB1 (DAB1, reelin adaptor protein)
EnsemblGeneIds (GRCh38): ENSG00000173406
EnsemblGeneIds (GRCh37): ENSG00000173406
OMIM: 603448, Gene2Phenotype
DAB1 is in 6 panels

1 review

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single individual reported with bi-allelic variants, note this is a distinct mechanism to the repeat expansion in this gene which is associated with disease.

WES trio analysis identified compound heterozygous DAB1 canonical splice variants in a child with epilepsy (onset 6 years), developmental delay, cerebellar ataxia, oral motor difficulty, and structural brain abnormalities. RT-PCR confirms that the first variant (c.307-2A>T) causes a in-frame deletion of 3 amino acids. The second variant (c.67+1G>T) is reported to causes an in-frame deletion of exon 4 (first coding exon) and loss of the ATG initiation site.
Created: 11 Oct 2021, 9:32 a.m. | Last Modified: 11 Oct 2021, 9:32 a.m.
Panel Version: 2.236

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ataxia; Intellectual disability

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 37
OMIM
603448
Clinvar variants
Variants in DAB1
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: DAB1 was added gene: DAB1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: DAB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DAB1 were set to 28686858 Phenotypes for gene: DAB1 were set to Spinocerebellar ataxia 37 Mode of pathogenicity for gene: DAB1 was set to Other - please provide details in the comments