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  3. HSPG2
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Arthrogryposis

Gene: HSPG2

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

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Recognised on G2P
Created: 5 Jan 2017, 9:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Schwartz-Jampel syndrome, type 1 255800

Publications

Created: 5 Jan 2017, 9:15 a.m.

Panel version: 1.216

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Schwartz-Jampel syndrome, type 1, OMIM:255800
  • Schwartz-Jampel syndrome, MONDO:0009717
OMIM
142461
Clinvar variants
Variants in HSPG2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Dec 2020, Gel status: 3

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; Schwartz-Jampel syndrome, MONDO:0009717

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

5 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

5 Jan 2017, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for HSPG2 were set to Schwartz-Jampel syndrome, type 1 255800

5 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for HSPG2 were set to 11101850, 155254

5 Jan 2017, Gel status: 4

Upload gene information

Alice Gardham (Genomics England)

HSPG2 was added to Arthrogryposispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

HSPG2 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

HSPG2 was created by ellenmcdonagh