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  3. HSPG2
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Skeletal Muscle Channelopathies

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

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Marked as green as this gene was suggested by expert reviewer Dr Matthews (UCL Institute of Neurology)
Created: 22 Feb 2017, 4:39 p.m.
This gene was suggested by expert Dr Matthews, as can cause overlapping phenotype
Created: 21 Feb 2017, 1:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Schwartz-Jampel syndrome, type 1, 255800

Created: 21 Feb 2017, 1:34 p.m.

Panel version: 0.55

Details

Mode of Inheritance
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
OMIM
142461
Clinvar variants
Variants in HSPG2
Penetrance
Complete
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, OMIM:255800 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

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 to Schwartz-Jampel syndrome, type 1, OMIM:255800

22 Feb 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team.

22 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

21 Feb 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

HSPG2 was created by arianna

21 Feb 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

HSPG2 was added to Skeletal Muscle Channelopathiespanel. Sources: Expert Review