Possible mitochondrial disorder - nuclear genes
Gene: SLC25A22
Updated information and Red review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: SLC25A22 is a known disease associated genes 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: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 3, 609304
Publications
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
Epileptic encephalopathy, early infantile, 3, 609304
Comment on list classification: Demoted from Green to Red due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.Created: 10 May 2019, 2:21 p.m.
Comment on list classification: This gene-disease was discussed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019, and it was decided to promote this gene from Amber to Green.Created: 25 Feb 2019, 5:38 p.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 Red List (Low Evidence).
Added phenotypes Epileptic encephalopathy, early infantile, 3, 609304 for gene: SLC25A22 Publications for gene SLC25A22 were changed from to 19780765; 15592994; 24596948 Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene: slc25a22 has been classified as Green List (High Evidence).
gene: SLC25A22 was added gene: SLC25A22 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber 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