GALNS

galactosamine (N-acetyl)-6-sulfatase
OMIM: 612222
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOPOLYSACCHARIDOSIS TYPE 4A 253000
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOPOLYSACCHARIDOSIS TYPE 4A
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 4A, Mucopolysaccharidosis Type IVA, Mucopolysaccharidosis IVA, 253000, Mucopolysaccharidosis, Type IV, MPS IVA, Morquio A disease (MPS IV, Morquio disease)
R-numbers: R276
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis IVA 253000
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis IVA 253000