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  2. Peroxisomal disorders
  3. GRHPR
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Peroxisomal disorders

Gene: GRHPR

Green List (high evidence)
GRHPR (glyoxylate and hydroxypyruvate reductase)
EnsemblGeneIds (GRCh38): ENSG00000137106
EnsemblGeneIds (GRCh37): ENSG00000137106
OMIM: 604296, Gene2Phenotype
GRHPR is in 6 panels

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Link to peroxisomal disorders unclear.
Created: 20 Jul 2020, 10:14 a.m. | Last Modified: 20 Jul 2020, 10:14 a.m.
Panel Version: 1.6
Created: 20 Jul 2020, 10:14 a.m.
Last Modified: 20 Jul 2020, 10:14 a.m.
Panel version: 1.6

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM, not in G2P. At least eight variants reported
Created: 23 Aug 2016, 10:37 a.m.
Created: 23 Aug 2016, 10:37 a.m.

Panel version: 0.72

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hyperoxaluria, primary, type II 260000
OMIM
604296
Clinvar variants
Variants in GRHPR
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Oct 2016, Gel status: 3

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 3rd October 2016

23 Aug 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for GRHPR were set to Hyperoxaluria, primary, type II 260000

23 Aug 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

GRHPR was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

19 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GRHPR was created by sleigh

19 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

GRHPR was added to Peroxisomal disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services