Possible mitochondrial disorder - nuclear genes

Gene: SLC25A22

Red List (low evidence)

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

• 19780765
• 15592994
• 24596948

I don't know

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.

Green List (high evidence)