GUSB

glucuronidase beta
OMIM: 611499
PanelMode of inheritanceDetails
8 panels
R-numbers: R135
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MPS VII, Sly disease (MPS IV, Morquio disease), Mucopolysaccharidosis VII, 253220, MUCOPOLYSACCHARIDOSIS TYPE 7, syndromic HCM, Mucopolysaccharidosis Type VII, Mucopolysaccharidosis, Type VII
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOPOLYSACCHARIDOSIS TYPE 7 253220
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOPOLYSACCHARIDOSIS TYPE 7
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis VII 253220
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOPOLYSACCHARIDOSIS TYPE 7, Mucopolysaccharidosis VII, 253220, MPS VII, Sly disease (MPS IV, Morquio disease), Mucopolysaccharidosis Type VII, Mucopolysaccharidosis, Type VII
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis VII, 253220, MUCOPOLYSACCHARIDOSIS TYPE 7 (MPS7)
R-numbers: R276
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis VII 253220
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis VII 253220