1. Genes and Genomic Entities
  2. VPS53

VPS53

VPS53, GARP complex subunit
OMIM: 615850, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Amber VPS53 in Ataxia and cerebellar anomalies - narrow panel


Version 4.64
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 Amber
    Phenotypes
    • Pontocerebellar Hypoplasia
    • Pontocerebellar Hypoplasia type 2E
    • Pontocerebellar hypoplasia 2E (#615851)
    Red VPS53 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Pontocerebellar hypoplasia 2E (#615851)
    Amber VPS53 in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.73

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • UKGTN
    • Other
    • Literature
    Phenotypes
    • Pontocerebellar Hypoplasia type 2E
    • Pontocerebellar Hypoplasia
    Red VPS53 in Adult onset neurodegenerative disorder


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

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review Red
    Phenotypes
    • Pontocerebellar hypoplasia 2E (#615851)
    Green VPS53 in Fetal anomalies


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    • PAGE Additional Gene List
    Phenotypes
    • PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851
    • Progressive cerebella-cerebral atrophy type 2
    Green VPS53 in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Progressive cerebella-cerebral atrophy type 2
    Green VPS53 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Literature
    Phenotypes
    • Pontocerebellar hypoplasia, type 2E, 615851
    • Progressive cerebello-cerebral atrophy
    • intellectual disability
    • developmental delay
    Tags
    • founder-effect
    Green VPS53 in Hereditary ataxia with onset in adulthood


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

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Wessex and West Midlands GLH
    • Hereditary ataxia v1.148
    Phenotypes
    • Pontocerebellar hypoplasia 2E, 615851
    Red VPS53 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green VPS53 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pontocerebellar hypoplasia, type 2E, 615851