VPS33A

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

5 panels

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


Level 2: Viral research
Version 1.146

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


Level 2: Metabolic
Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

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
Amber VPS33A in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.33
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mucopolysaccharidosis-plus syndrome, OMIM:617303
    • mucopolysaccharidosis-plus syndrome, MONDO:0015012
    Tags
    • Q1_25_ promote_green
    Green VPS33A in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.91
    Latest signed off version: v8.0 (30 Apr 2025)

    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
    Amber VPS33A in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mucopolysaccharidosis-plus syndrome, OMIM:617303
    • mucopolysaccharidosis-plus syndrome, MONDO:0015012
    Tags
    • Q1_25_ promote_green