Possible mitochondrial disorder - nuclear genes
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
4 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE), 212350
Carl Fratter (Oxford University Hospitals NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed in G2P and OMIM.Created: 10 Feb 2016, 11:10 a.m.
Comment on list classification: Both reviewers agree this should be promoted from red to green. It is a confirmed DD gene for Sengers syndrome.Created: 10 Feb 2016, 11:09 a.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE), 212350
- OMIM
- 610345
- Clinvar variants
- Variants in AGK
- Penetrance
- None
- Panels with this gene
-
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- Nephrocalcinosis or nephrolithiasis
- Peroxisomal disorders
- Mitochondrial DNA maintenance disorder
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Possible mitochondrial disorder - nuclear genes
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Structural eye disease
History Filter Activity
4 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: AGK was added gene: AGK was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGK were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE), 212350