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Epileptic encephalopathy

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 10 panels

5 reviews

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, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Mental retardation, X-linked syndromic, Christianson type
OMIM
300231
Clinvar variants
Variants in SLC9A6
Penetrance
Complete
Publications
  • Gilfillan et al (2008) Am J Hum Genet 82: 1003_1010
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 Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SLC9A6 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

29 Jan 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SLC9A6 were set to Mental retardation, X-linked syndromic, Christianson type

29 Jan 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

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

29 Jan 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SLC9A6 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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)

SLC9A6 was added to Epileptic encephalopathypanel. Source: Expert Review Green

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC9A6 was added to Epileptic encephalopathypanel. Sources: UKGTN