1. Genes and Genomic Entities
  2. DAB1

DAB1

DAB1, reelin adaptor protein
OMIM: 603448, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red DAB1 in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • cerebellar ataxia, MONDO:0000437
    Red DAB1 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.344

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • Spinocerebellar ataxia 37 615945
    Tags
    • founder-effect
    • currently-ngs-unreportable
    • nucleotide-repeat-expansion
    Red DAB1 in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.11
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    Phenotypes
    • Spinocerebellar ataxia 37 615945
    Tags
    • nucleotide-repeat-expansion
    • founder-effect
    • currently-ngs-unreportable
    Red DAB1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review Not set
    Sources
    • Victorian Clinical Genetics Services
    Red DAB1 in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.23
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Red
    • Hereditary ataxia v1.148
    Phenotypes
    • Spinocerebellar ataxia 37, OMIM: 615945
    Tags
    • nucleotide-repeat-expansion
    • founder-effect
    • currently-ngs-unreportable
    Red DAB1_ATTTC STR in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.23
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Literature
    Phenotypes
    • Spinocerebellar ataxia 37, OMIM: 615945
    Tags
    • STR
    • NGS Not Validated