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Genetic epilepsy syndromes

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

7 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR Combined D-2 and L-2 hydroxyglutaric acidurea. Seizures are a feature. Muntau et al, 2000 - 3 patients including 2 sibs - all had seizures and other features. All died in early childhood - transmission patterns suggestive of AR - don't think genetic testing done. Nota et al, 2013, 12 patients from unrelated families of Arabic, European or Latin American descent - all had seizures, missense, nonsense and fs -hom/compound het in all patients. Edvardson et al, 2013 - 18 month old girl - developed epilepsy - compound het mutation. Pop et al, 2018 - overview. To date 16 mutations reported (26 patients) - 75% missense, seizures seen clinically in 20 patients - functional assay done to look at expression studies in the missense variants - variants did seem to lead to impaiment of CIC function, in addtion those with less impaired function seemed to have a milder presentation.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 609304

Publications

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
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 3
OMIM
609302
Clinvar variants
Variants in SLC25A22
Penetrance
None
Publications
  • Molinari et al (2005) Am J Hum Genet 76: 334_339
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to SLC25A22.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SLC25A22.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment on mode of inheritance

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to SLC25A22. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to SLC25A22. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

SLC25A22 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

SLC25A22 was created by Sarah Leigh