Epileptic encephalopathy
Gene: SLC9A6EnsemblGeneIds (GRCh38): ENSG00000198689
EnsemblGeneIds (GRCh37): ENSG00000198689
OMIM: 300231, Gene2Phenotype
SLC9A6 is in 10 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
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)
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)
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)
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
-
- Hereditary ataxia with onset in adulthood
- Severe microcephaly
- Intellectual disability
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Fetal anomalies
- Ataxia and cerebellar anomalies - narrow panel
- Early onset or syndromic epilepsy
- Adult onset neurodegenerative disorder
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SLC9A6 were set to Mental retardation, X-linked syndromic, Christianson type
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SLC9A6 were set to Gilfillan et al (2008) Am J Hum Genet 82: 1003_1010
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SLC9A6 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)SLC9A6 was added to Epileptic encephalopathypanel. Source: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)SLC9A6 was added to Epileptic encephalopathypanel. Sources: UKGTN