Genomics England
GMS Panels
Panels
Genes and Entities

VPS33A

VPS33A, CORVET/HOPS core subunit
OMIM: 610034
PanelMode of inheritanceDetails
2 panels
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 6.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis-plus syndrome OMIM:617303, mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012
Green
in Lysosomal storage disorder
R-numbers: R276
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis-plus syndrome OMIM:617303, mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012