GNS

glucosamine (N-acetyl)-6-sulfatase
OMIM: 607664
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOPOLYSACCHARIDOSIS TYPE 3D 252940
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOPOLYSACCHARIDOSIS TYPE 3D
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
MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses), Mucopolysaccharidosis Type IIID, Mucopolysaccharidosis type IIID, 252940, Mucopolysaccharidosis Type III, Mucopolysaccharidosis, Type III
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 type IIID, 252940, MUCOPOLYSACCHARIDOSIS TYPE 3D (MPS3D)
R-numbers: R276
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIID 252940
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIID 252940