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  1. Genes and Genomic Entities
  2. VPS11

VPS11

VPS11, CORVET/HOPS core subunit
OMIM: 608549, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green VPS11 in Mendeliome


Version 1.3499

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, hypomyelinating, 12, MIM# 616683
Tags
  • founder

Green VPS11 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.263

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 12, MIM#616683
    Tags
    • founder

    Green VPS11 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.398

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leukodystrophy, hypomyelinating, 12, MIM#616683
    Tags
    • founder

    Red VPS11 in Dystonia - isolated/combined


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.42

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Dystonia 32, MIM# 619637
    • Dystonia, adult-onset

    Green VPS11 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.333

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Leukodystrophy, hypomyelinating, 12, MIM#616683
    Tags
    • founder

    Green VPS11 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive

    Green VPS11 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive
    Tags
    • founder

    Green VPS11 in Prepair 500+


    Level 2: Screening
    Version 2.0

    		3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    • Mackenzie's Mission
    Phenotypes
    • Leukodystrophy, hypomyelinating, 12 MIM#616683