Blepharophimosis
Gene: HSPG2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive condition defined by the association of myotonia with chondrodysplasia; blepharophimosis is a key feature.

More than 20 families reported.
Created: 5 Jun 2021, 4:38 a.m. | Last Modified: 5 Jun 2021, 4:38 a.m.

Panel Version: 0.28

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Schwartz-Jampel syndrome, type 1, MIM# 255800; MONDO:0009717

Publications

Created: 5 Jun 2021, 4:38 a.m.
Last Modified: 5 Jun 2021, 4:38 a.m.
Panel version: 0.28

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Schwartz-Jampel syndrome, type 1, MIM# 255800
MONDO:0009717

OMIM

142461

Clinvar variants

Variants in HSPG2

Penetrance

None

Publications

Panels with this gene