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Gene: HSPG2

Green List (high evidence)
HSPG2 (heparan sulfate proteoglycan 2)
EnsemblGeneIds (GRCh38): ENSG00000142798
EnsemblGeneIds (GRCh37): ENSG00000142798
OMIM: 142461, Gene2Phenotype
HSPG2 is in 11 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Schwartz-Jampel syndrome is a rare disorder characterized by permanent myotonic myopathy and skeletal dysplasia, type 1 is characterized by partial loss-of-function mutations distributed along the HSPG2 gene (PMID: 37761893).

Silverman-Handmaker type of dyssegmental dysplasia is a less frequent and more severe disorder caused by functionally null mutations of the HSPG2. In this condition, the complete loss of function and lack of extracellular protein expression causes severe vertebral disc separation and thoracic dysplasia, leading to perinatal lethality (PMID: 37761893).
Created: 9 Jan 2025, 4:03 a.m. | Last Modified: 9 Jan 2025, 4:03 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 9 Jan 2025, 4:03 a.m.
Last Modified: 9 Jan 2025, 4:03 a.m.
Panel version: 1.992

Details

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

History Filter Activity

16 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hspg2 has been classified as Green List (High Evidence).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HSPG2 were changed from Schwartz-Jampel syndrome, type 1, 255800 (3) to Schwartz-Jampel syndrome, type 1, MIM# 255800; Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HSPG2 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HSPG2 was added gene: HSPG2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome, type 1, 255800 (3)