HSPG2

heparan sulfate proteoglycan 2
OMIM: 142461
PanelMode of inheritanceDetails
4 panels
R-numbers: R83
Signed-off version 4.1
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 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SCHWARTZ-JAMPEL SYNDROME 255800, DYSSEGMENTAL DYSPLASIA SILVERMAN-HANDMAKER TYPE 224410
R-numbers: R21, R412
Signed-off version 2.4
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
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
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