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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. HSPG2
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GMS Musculoskeletal specialist test group Skeletal dysplasia

Gene: HSPG2

Green List (high evidence)
HSPG2 (heparan sulfate proteoglycan 2)
EnsemblGeneIds (GRCh38): ENSG00000142798
EnsemblGeneIds (GRCh37): ENSG00000142798
OMIM: 142461, Gene2Phenotype
HSPG2 is in 8 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Perlecan gp of SD. Several cases. Gene previously called PLC.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyssegmental dysplasia, Silverman-Handmaker type 224410; Schwartz-Jampel syndrome, type 1 255800

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Dyssegmental dysplasia, Silverman-Handmaker type 224410
  • Schwartz-Jampel syndrome, type 1 255800
OMIM
142461
Clinvar variants
Variants in HSPG2
Penetrance
None
Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: HSPG2 was added gene: HSPG2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSPG2 were set to Dyssegmental dysplasia, Silverman-Handmaker type 224410; Schwartz-Jampel syndrome, type 1 255800