GUSB

glucuronidase beta
OMIM: 611499
PanelMode of inheritanceDetails
8 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOPOLYSACCHARIDOSIS TYPE 7 253220
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOPOLYSACCHARIDOSIS TYPE 7
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis VII, OMIM:253220
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis VII, 253220, MUCOPOLYSACCHARIDOSIS TYPE 7 (MPS7)
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 4.0
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
R-numbers: R276
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis VII OMIM:253220, mucopolysaccharidosis type 7 MONDO:0009662
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 3.0
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
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis VII 253220