Genomics England
GMS Panels
Panels
Genes and Entities

SGSH

N-sulfoglucosamine sulfohydrolase
OMIM: 605270
PanelMode of inheritanceDetails
8 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOPOLYSACCHARIDOSIS TYPE 3A 252900
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900, seizures
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOPOLYSACCHARIDOSIS TYPE 3A (MPS3A)
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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis Type III, Mucopolysaccharidosis, Type III, Mucopolysaccharidosis Type IIIA, MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses), MUCOPOLYSACCHARIDOSIS TYPE 3A
Green
in Lysosomal storage disorder
R-numbers: R276
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type IIIA (Sanfilippo A) OMIM:252900, Sanfilippo syndrome type A MONDO:0009655
Green
in Mucopolysaccharidosis type IIIA
R-numbers: R291
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy, HP:0000556, retinitis pigmentosa, MONDO:0019200
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900