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  2. Likely inborn error of metabolism
  3. SLC25A22
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Likely inborn error of metabolism

Gene: SLC25A22

Green List (high evidence)
SLC25A22 (solute carrier family 25 member 22)
EnsemblGeneIds (GRCh38): ENSG00000177542
EnsemblGeneIds (GRCh37): ENSG00000177542
OMIM: 609302, Gene2Phenotype
SLC25A22 is in 9 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Red List (low evidence)

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

Created: 11 Jun 2019, 3:59 p.m.

Panel version: Imported from Mitochondrial disorders panel version 1.384

Ellen McDonagh (Genomics England Curator)

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.
Created: 2 Mar 2016, 2:02 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.469

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:33 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 3, 609304
  • Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
OMIM
609302
Clinvar variants
Variants in SLC25A22
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Feb 2021, Gel status: 3

Clear Sources

Eleanor Williams (Genomics England Curator)

Source: Expert Review Red was removed from gene: SLC25A22

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC25A22. Source London North GLH was added to SLC25A22.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

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

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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