STUB1

STIP1 homology and U-box containing protein 1
OMIM: 607207, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green STUB1 in Ataxia and cerebellar anomalies - narrow panel


Version 2.300
Latest signed off version: v2.23 (8 Oct 2020)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 16
    • Spinocerebellar ataxia, autosomal recessive 16 615768

    Green STUB1 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.303

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 16

    Red STUB1 in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 16 615768

    Red STUB1 in Neurodegenerative disorders - adult onset


    Version 2.275
    Latest signed off version: v2.178 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 16

    Red STUB1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1677
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 16, 615768

    Green STUB1 in Hereditary ataxia - adult onset


    Version 2.158
    Latest signed off version: v2.13 (6 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Autosomal recessive spinocerebellar ataxia type 16, 615768
    • Spinocerebellar ataxia, autosomal recessive 16

    Amber STUB1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.246
    Latest signed off version: v1.137 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • Expert Review Amber
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 16, 615768

    Green STUB1 in Severe Paediatric Disorders


    Version 1.127

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 16, 615768
    • ?Spinocerebellar ataxia 48, 618093