Mitochondrial disorders
Gene: 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.
Phenotypes
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.
Gene: slc25a22 has been classified as Red List (Low Evidence).
Gene: slc25a22 has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for SLC25A22 were set to Epileptic encephalopathy, early infantile, 3, 609304
Mode of inheritance for SLC25A22 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SLC25A22 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen
SLC25A22 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen