VPS4A

vacuolar protein sorting 4 homolog A
OMIM: 609982, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red VPS4A in COVID-19 research


Level 2: Viral research
Version 1.142

review Unknown
Sources
  • OMIM
Green VPS4A in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • CIMDAG syndrome
Green VPS4A in Rare anaemia


Version 3.8
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Research
  • Literature
Phenotypes
  • CIMDAG syndrome
Green VPS4A in DDG2P


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

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CIMDAG Syndrome, biallelic
    • CIMDAG Syndrome, monoallelic
    Green VPS4A 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Research
    • Literature
    Phenotypes
    • CIMDAG syndrome
    Green VPS4A in Childhood onset dystonia, chorea or related movement disorder


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

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • CIMDAG syndrome
    Tags
    • watchlist_moi