Nephrocalcinosis or nephrolithiasis
Gene: AGK
AGK (acylglycerol kinase)
EnsemblGeneIds (GRCh38): ENSG00000006530
EnsemblGeneIds (GRCh37): ENSG00000006530
OMIM: 610345, Gene2Phenotype
AGK is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000006530
EnsemblGeneIds (GRCh37): ENSG00000006530
OMIM: 610345, Gene2Phenotype
AGK is in 14 panels
2 reviews
Detlef Bockenhauer (GOSH-UCL)
I agree AGK should be AGXTCreated: 30 Oct 2019, 11:59 a.m. | Last Modified: 30 Oct 2019, 11:59 a.m.
Panel Version: 1.23
Fiona Karet (Universit y of Cambridge)
This is a cataract gene.
I think you meant to put AGXT!Created: 31 Oct 2015, 3:08 p.m.
Details
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Hyperoxaluria, primary, type 1, 259900
- OMIM
- 610345
- Clinvar variants
- Variants in AGK
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Peroxisomal disorders
- Intellectual disability
- Possible mitochondrial disorder, nuclear genes
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- Undiagnosed metabolic disorders
- Paediatric or syndromic cardiomyopathy
- Nephrocalcinosis or nephrolithiasis
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- DDG2P
History Filter Activity
20 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
28 Apr 2015, Gel status: 1
Added New Source
GEL ()AGK was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Radboud University Medical Center, Nijmegen