Genomics England
GMS Panels
Panels
Genes and Entities

GNS

glucosamine (N-acetyl)-6-sulfatase
OMIM: 607664
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOPOLYSACCHARIDOSIS TYPE 3D 252940
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIID, OMIM:252940
Green
in Likely inborn error of metabolism
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 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIID, OMIM:252940
Green
in Lysosomal storage disorder
R-numbers: R276
Signed-off version 3.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIID, OMIM:252940
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIID, OMIM:252940