Genomics England
GMS Panels
Panels
Genes and Entities

VPS33A

VPS33A, CORVET/HOPS core subunit
OMIM: 610034
PanelMode of inheritanceDetails
5 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis-plus syndrome, OMIM:617303
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis-plus syndrome, OMIM:617303, mucopolysaccharidosis-plus syndrome, MONDO:0015012
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 9.0
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 3.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis-plus syndrome OMIM:617303, mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis-plus syndrome, OMIM:617303, mucopolysaccharidosis-plus syndrome, MONDO:0015012