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Genetic epilepsy syndromes

Gene: SLC9A6

Green List (high evidence)

SLC9A6 (solute carrier family 9 member A6)
EnsemblGeneIds (GRCh38): ENSG00000198689
EnsemblGeneIds (GRCh37): ENSG00000198689
OMIM: 300231, Gene2Phenotype
SLC9A6 is in 9 panels

7 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

X-linked dominant syndromic mental retardation (Christianson type). Along with other features see early onset seizures of variable types.Christianson et al 1999, 5 generation S African family - 16 affected males, 10 carrier females - 87.5% of the males had grand mal seizures. Gilfillan et al, 2008 - 3 additional families epilepsy occured between 9 & 26 months. SLC9A6 variants were identified in all 4 of these families. Schroer et al, 2010 - large family with 6 affected males - all had onset of seizures by 2 years - nonsense variant detected. Pescosolido et al, 2014 - 14 boys from 12 unrelated families (one family prev reported by Schroer) - all patients early onset of variable seizures.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Mental retardation, X-linked syndromic, Christianson type, 300243

Publications

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
Comment on mode of inheritance: Comment on mode of inheritance: Changed the MOI from XLR to XLD based on Pescosolido et al., 2014 (PMID:25044251) who report some symptoms (mild to moderate ID) in heterozygous female carriers. Note that NHE6 is an alias for SLC9A6. Although Gene2Phenotype list a hemizygous inheritance for 'MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE' OMIM record an XLD inheritance for MIM:300243.
Created: 18 Jul 2019, 10:30 a.m. | Last Modified: 18 Jul 2019, 10:30 a.m.
Panel Version: 1.168

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mental retardation, X-linked syndromic, Christianson type

Publications

  • Gilfillan et al (2008) Am J Hum Genet 82: 1003_1010

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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mental retardation, X-linked syndromic, Christianson type

Publications

  • Gilfillan et al (2008) Am J Hum Genet 82: 1003_1010

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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mental retardation, X-linked syndromic, Christianson type

Publications

  • Gilfillan et al (2008) Am J Hum Genet 82: 1003_1010

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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mental retardation, X-linked syndromic, Christianson type

Publications

  • Gilfillan et al (2008) Am J Hum Genet 82: 1003 1010

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

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed with reviewer biallelic in females.
Created: 29 Jan 2016, 5:26 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • UKGTN
Phenotypes
  • Mental retardation, X-linked syndromic, Christianson type, 300243
OMIM
300231
Clinvar variants
Variants in SLC9A6
Penetrance
None
Publications
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 SLC9A6.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SLC9A6.

18 Jul 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: SLC9A6 were changed from Mental retardation, X-linked syndromic, Christianson type to Mental retardation, X-linked syndromic, Christianson type, 300243

18 Jul 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: SLC9A6 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

15 Jul 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: SLC9A6 were set to Gilfillan et al (2008) Am J Hum Genet 82: 1003_1010

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment on mode of inheritance

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to SLC9A6. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

SLC9A6 was added to Genetic Epilepsy Syndromes panel. Sources: UKGTN,Expert Review Green

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

SLC9A6 was created by Sarah Leigh