VPS33A

VPS33A, CORVET/HOPS core subunit
OMIM: 610034, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red VPS33A in COVID-19 research


Level 2: Viral research
Version 1.147

review Unknown
Sources
  • Expert list
  • OMIM
  • Expert Review Red
Green VPS33A in Lysosomal storage disorder


Level 2: Metabolic
Version 3.6
Latest signed off version: v3.5 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Mucopolysaccharidosis-plus syndrome OMIM:617303
  • mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012
Green VPS33A in Skeletal dysplasia


Level 2: Musculoskeletal
Version 9.9
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Mucopolysaccharidosis-plus syndrome, OMIM:617303
    • mucopolysaccharidosis-plus syndrome, MONDO:0015012
    Green VPS33A in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.4
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Other
    Phenotypes
    • Mucopolysaccharidosis-plus syndrome OMIM:617303
    • mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012
    Green VPS33A in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.8
    Latest signed off version: v7.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Mucopolysaccharidosis-plus syndrome, OMIM:617303
    Green VPS33A in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Mucopolysaccharidosis-plus syndrome, OMIM:617303
    • mucopolysaccharidosis-plus syndrome, MONDO:0015012