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Epileptic encephalopathy

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

5 reviews

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 3

Publications

  • Molinari et al (2005) Am J Hum Genet 76: 334_339

Variants in this GENE are reported as part of current diagnostic practice

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 3

Publications

  • Molinari et al (2005) Am J Hum Genet 76: 334_339

Variants in this GENE are reported as part of current diagnostic practice

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 3

Publications

  • Molinari et al (2005) Am J Hum Genet 76: 334_339

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 3

Publications

  • Molinari et al (2005) Am J Hum Genet 76: 334 339

Mode of pathogenicity
loss-of-function (truncating variants and curated list of variants)

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: All reviewers agree this gene should be green and would report variants within this gene as part of their current diagnostic practice. Probable DD gene. Mutation consequence summary from G2P: all missense/in frame.
Created: 29 Jan 2016, 2:44 p.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 29 Jan 2016, 2:30 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 3
OMIM
609302
Clinvar variants
Variants in SLC25A22
Penetrance
Complete
Publications
  • Molinari et al (2005) Am J Hum Genet 76: 334_339
Panels with this gene

History Filter Activity

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Jan 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SLC25A22 were set to Epileptic encephalopathy, early infantile, 3

29 Jan 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SLC25A22 were set to Molinari et al (2005) Am J Hum Genet 76: 334_339

29 Jan 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SLC25A22 was changed to BIALLELIC, autosomal or pseudoautosomal

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC25A22 was added to Epileptic encephalopathypanel. Source: Expert Review Green

13 Nov 2015, Gel status: 3

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC25A22 was changed to BIALLELIC, autosomal or pseudoautosomal

1 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC25A22 was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert

1 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC25A22 was changed to BIALLELIC, autosomal or pseudoautosomal

1 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC25A22 was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert

1 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC25A22 was changed to BIALLELIC, autosomal or pseudoautosomal

1 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC25A22 was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC25A22 was added to Epileptic encephalopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert