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  2. Nephrocalcinosis or nephrolithiasis
  3. AGXT
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Nephrocalcinosis or nephrolithiasis

Gene: AGXT

Green List (high evidence)
AGXT (alanine-glyoxylate aminotransferase)
EnsemblGeneIds (GRCh38): ENSG00000172482
EnsemblGeneIds (GRCh37): ENSG00000172482
OMIM: 604285, Gene2Phenotype
AGXT is in 10 panels

3 reviews

Shabbir Moochhala (UCL Centre for Nephrology)

Green List (high evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
primary hyperoxaluria

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Two reviewers agree this should be green, and it is a "Both DD and IF" gene in G2P for hyperoxaluria, primary, type 1.
Created: 9 May 2016, 10:30 a.m.
Created: 9 May 2016, 10:30 a.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Primary Hyperoxaluria Type 1
  • Primary Hyperoxaluria
  • Hyperoxaluria, primary, type 1, 259900
  • Hyperoxaluria
  • primary hyperoxaluria
OMIM
604285
Clinvar variants
Variants in AGXT
Penetrance
Complete
Panels with this gene

History Filter Activity

9 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

9 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

9 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for AGXT were set to Primary Hyperoxaluria Type 1; Primary Hyperoxaluria; Hyperoxaluria, primary, type 1, 259900; Hyperoxaluria; primary hyperoxaluria

12 Aug 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

AGXT was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Eligibility statement prior genetic testing

8 May 2015, Gel status: 4

Added New Source

Eik Haraldsdottir (Genomics England)

AGXT was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

AGXT was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

AGXT was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

AGXT was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

AGXT was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Emory Genetics Laboratory