HSPG2

heparan sulfate proteoglycan 2
OMIM: 142461, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red HSPG2 in Skeletal Muscle Channelopathies Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.48	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review 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
Red HSPG2 in Paroxysmal central nervous system disorders Level 2: Neurology Version 4.2 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Wessex and West Midlands GLH 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
Green HSPG2 in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Expert list Phenotypes Schwartz-Jampel syndrome, type 1, OMIM:255800 Schwartz-Jampel syndrome, MONDO:0009717
Green HSPG2 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Expert list Radboud University Medical Center, Nijmegen 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
Green HSPG2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green 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
No list HSPG2 in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Disproportionate Short Stature Tags curated_removed
Green HSPG2 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SCHWARTZ-JAMPEL SYNDROME 255800 DYSSEGMENTAL DYSPLASIA SILVERMAN-HANDMAKER TYPE 224410
Amber HSPG2 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Schwartz-Jampel syndrome, type 1, OMIM:255800 Schwartz-Jampel syndrome, MONDO:0009717