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


Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

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 1.332

    		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


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    		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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    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


    Version 4.34
    Latest signed off version: v4.0 (22 Mar 2023)

    		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, 615945
    • Spinocerebellar ataxia 37 615945
    Tags
    • nucleotide-repeat-expansion
    • founder-effect
    • currently-ngs-unreportable
    Green DAB1 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 37, 615945