Inborn errors of metabolismGene: SLC25A22
SLC25A22 is a known disease associated gene and encodes the mitochondrial glutamate carrier. However, this does not present clinically as mitochondrial disease and will be on epilepsy gene panels. Therefore, classified as red for the mitochondrial disease gene panel.
Created: 11 Jun 2019, 3:59 p.m.
Epileptic encephalopathy, early infantile, 3, 609304
Comment on list classification: Demoted from Green to Red due to review from the GMS mitochondrial specialist group review, submitted by Carl Fratter on 11th June 2019, and agreement with Anna De Burca and Helen Brittain in the Genomics England Clinical Team on 14th June 2019. This is not considered a mitochondrial disease and is covered by the Genetic epilepsy syndromes panel if the patient presents with epilepsy (code 402, Version 1.56).
Created: 14 Jun 2019, 10:09 a.m.
Comment on list classification: Promoted from red to green due to expert review, and it is a probable DD gene for epileptic encephalopathy, early infantile 3. Is a green gene on the revised EE and ID gene panels on PanelApp.
Created: 2 Mar 2016, 2:03 p.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 2 Mar 2016, 2:02 p.m.
Source NHS GMS was added to SLC25A22. Source London North GLH was added to SLC25A22.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Epileptic encephalopathy, early infantile, 3, 609304; Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: SLC25A22 Publications for gene SLC25A22 were changed from to 27604308
gene: SLC25A22 was added gene: SLC25A22 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A22 were set to Epileptic encephalopathy, early infantile, 3, 609304