Genomics England
GMS Panels
Panels
Genes and Entities

HYAL1

hyaluronoglucosaminidase 1
OMIM: 607071
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MUCOPOLYSACCHARIDOSIS TYPE 9 601492
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mucopolysaccharidosis type IX, 601492, MPS IX, Natowicz (MPS IV, Morquio disease)
Green
in Lysosomal storage disorder
R-numbers: R276
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mucopolysaccharidosis type IX OMIM:601492, mucopolysaccharidosis type 9 MONDO:0011093