1. Panels
  2. Paroxysmal central nervous system disorders
  3. HSPG2

Paroxysmal central nervous system disorders

Gene: HSPG2

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

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Created: 2 Sep 2019, 2:37 p.m.
Last Modified: 2 Sep 2019, 2:37 p.m.
Panel version: 0.25

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Created: 2 Sep 2019, 1:39 p.m.
Last Modified: 2 Sep 2019, 1:39 p.m.
Panel version: 0.26

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Not a CNS disorder
Created: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 2 Sep 2019, 1:30 p.m.
Last Modified: 2 Sep 2019, 1:30 p.m.
Panel version: 0.22

Details

Mode of Inheritance
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
OMIM
142461
Clinvar variants
Variants in HSPG2
Penetrance
None
Panels with this gene

History Filter Activity

21 Dec 2020, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

24 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: hspg2 has been classified as Red List (Low Evidence).

24 Sep 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

2 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to HSPG2.

2 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to HSPG2.

2 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to HSPG2.

3 Jan 2019, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Schwartz-Jampel syndrome, type 1, 255800 for gene: HSPG2

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: HSPG2 was added gene: HSPG2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red 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