1. Genes and Genomic Entities
  2. HSPG2

HSPG2

heparan sulfate proteoglycan 2
OMIM: 142461, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Red HSPG2 in Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.46

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


Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

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 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Schwartz-Jampel syndrome, type 1, OMIM:255800
  • Schwartz-Jampel syndrome, MONDO:0009717
Green HSPG2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    • Emory Genetics Laboratory
    • 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


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Disproportionate Short Stature
    Tags
    • curated_removed
    Green HSPG2 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    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
    Green HSPG2 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    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