Mitochondrial DNA maintenance disorder
Gene: AGKEnsemblGeneIds (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. Gene Symbol submitted: AGK; Suggested intial gene rating: Red. Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:28 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 when marking as ready: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Red on this panel due to the clinical indication, as the molecular mechanism of variants in this gene being involved in maintenance has not been confirmed.Created: 25 Feb 2019, 4:30 p.m.
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
-
- Expert Review Red
- NHS GMS
- Phenotypes
-
- MITOCHONDRIAL DNA DEPLETION SYNDROME 10 (CARDIOMYOPATHIC TYPE), 212350
- OMIM
- 610345
- Clinvar variants
- Variants in AGK
- Penetrance
- None
- Panels with this gene
-
- Structural eye disease
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Nephrocalcinosis or nephrolithiasis
- Likely inborn error of metabolism
- Peroxisomal disorders
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
History Filter Activity
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: agk has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: AGK was added gene: AGK was added to Mitochondrial DNA maintenance disorder. Sources: 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