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  2. Nephrocalcinosis or nephrolithiasis
  3. HOGA1
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Nephrocalcinosis or nephrolithiasis

Gene: HOGA1

Green List (high evidence)
HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1)
EnsemblGeneIds (GRCh38): ENSG00000241935
EnsemblGeneIds (GRCh37): ENSG00000241935
OMIM: 613597, Gene2Phenotype
HOGA1 is in 6 panels

2 reviews

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary hyperoxaluria Type 3

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

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Green gene with a green review. More than 3 families/cases reported in OMIM, and several different variants reported.
Created: 9 May 2016, 10:41 a.m.
Created: 9 May 2016, 10:41 a.m.

Panel version: 0.11

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
Phenotypes
  • Primary Hyperoxaluria
  • Hyperoxaluria, primary, type III, 613616
  • Hyperoxaluria
OMIM
613597
Clinvar variants
Variants in HOGA1
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: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for HOGA1 were set to

12 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

HOGA1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Eligibility statement prior genetic testing

7 May 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

HOGA1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

HOGA1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

HOGA1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

HOGA1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: UKGTN