This Panel is marked as Internal
Other peroxisomal disorders
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
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Details
- Sources
-
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Hyperoxaluria, primary, type 1, 259900
- OMIM
- 610345
- Clinvar variants
- Variants in AGK
- Penetrance
- Complete
- Panels with this gene
-
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
- Structural eye disease
- Nephrocalcinosis or nephrolithiasis
- Childhood onset dystonia, chorea or related movement disorder
- Peroxisomal disorders
- Paediatric or syndromic cardiomyopathy
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- Intellectual disability
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- DDG2P
- Bilateral congenital or childhood onset cataracts
History Filter Activity
7 Aug 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)AGK was added to Other peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen