HSPG2

heparan sulfate proteoglycan 2
OMIM: 142461
PanelMode of inheritanceDetails
4 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schwartz-Jampel syndrome, type 1 255800
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SCHWARTZ-JAMPEL SYNDROME 255800, DYSSEGMENTAL DYSPLASIA SILVERMAN-HANDMAKER TYPE 224410
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
DYSSEGMENTAL DYSPLASIA SILVERMAN-HANDMAKER TYPE, SCHWARTZ-JAMPEL SYNDROME
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyssegmental dysplasia, Silverman-Handmaker type 224410, Schwartz-Jampel syndrome, type 1 255800