GLB1

galactosidase beta 1
OMIM: 611458
PanelMode of inheritanceDetails
10 panels
R-numbers: R135
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM1-gangliosidosis, type I, 230500, Mucopolysaccharidosis type IVB (Morquio), 253010, GM1-gangliosidosis (Sphingolipidoses), syndromic HCM, Mucopolysaccharidosis Type IVB, GM1-gangliosidosis, type II, 230600, MUCOPOLYSACCHARIDOSIS TYPE 4B, MPS IVB, Morquio B disease (MPS IV, Morquio disease), GM1-gangliosidosis, type III, 230650, Mucopolysaccharidosis, Type IV
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM1-gangliosidosis, type III, 230650
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM1-GANGLIOSIDOSIS TYPE 1 230500, MUCOPOLYSACCHARIDOSIS TYPE 4B 253010, GM1-GANGLIOSIDOSIS TYPE 2 230600, GM1-GANGLIOSIDOSIS TYPE 3 230650
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM1-GANGLIOSIDOSIS TYPE 1, GM1-GANGLIOSIDOSIS TYPE 2, GM1-GANGLIOSIDOSIS TYPE 3, MUCOPOLYSACCHARIDOSIS TYPE 4B
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM1-gangliosidosis, type II, 230600, seizures
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 4B, MPS IVB, Morquio B disease (MPS IV, Morquio disease), Mucopolysaccharidosis type IVB (Morquio), 253010, GM1-gangliosidosis (Sphingolipidoses), GM1-gangliosidosis, type II, 230600, GM1-gangliosidosis, type III, 230650, Mucopolysaccharidosis, Type IV, Mucopolysaccharidosis Type IVB, GM1-gangliosidosis, type I, 230500
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
GM1-gangliosidosis, type I, 230500GM1-gangliosidosis, type II, 230600GM1-gangliosidosis, type III, 230650Mucopolysaccharidosis type IVB (Morquio), 253010, MUCOPOLYSACCHARIDOSIS TYPE 4B (MPS4B)
R-numbers: R276
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IVB (Morquio) 253010, GM1-gangliosidosis, type III 230650, GM1-gangliosidosis, type I 230500, GM1-gangliosidosis, type II 230600
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM1-gangliosidosis, type II 230600, GM1-gangliosidosis, type I 230500, GM1-gangliosidosis, type III 230650, Mucopolysaccharidosis type IVB (Morquio) 253010
R-numbers: R62
Signed-off version 1.25
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
white matter abnormality