Genomics England
GMS Panels
Panels
Genes and Entities

HSPG2

heparan sulfate proteoglycan 2
OMIM: 142461
PanelMode of inheritanceDetails
4 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schwartz-Jampel syndrome, type 1, OMIM:255800, Schwartz-Jampel syndrome, MONDO:0009717
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SCHWARTZ-JAMPEL SYNDROME 255800, DYSSEGMENTAL DYSPLASIA SILVERMAN-HANDMAKER TYPE 224410
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schwartz-Jampel syndrome, type 1, OMIM:255800, Schwartz-Jampel syndrome, MONDO:0009717, Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410, Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140
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
Schwartz-Jampel syndrome, type 1, OMIM:255800, Schwartz-Jampel syndrome, MONDO:0009717, Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410, Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140