Genomics England
GMS Panels
Panels
Genes and Entities

HS2ST1

heparan sulfate 2-O-sulfotransferase 1
OMIM: 604844
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HS2ST1-related Developmental Disorder
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 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, dysmorphic features, congenital anomalies
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.31
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, dysmorphic features, congenital anomalies, Neurofacioskeletal syndrome with or without renal agenesis,OMIM:619194