Epileptic encephalopathy
Gene: SLC9A6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, X-linked syndromic, Christianson type
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, X-linked syndromic, Christianson type
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, X-linked syndromic, Christianson type
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, X-linked syndromic, Christianson type
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Confirmed with reviewer biallelic in females.Created: 29 Jan 2016, 5:26 p.m.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SLC9A6 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for SLC9A6 were set to Mental retardation, X-linked syndromic, Christianson type
Publications for SLC9A6 were set to Gilfillan et al (2008) Am J Hum Genet 82: 1003_1010
Mode of inheritance for SLC9A6 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
The Gel status was updated for this whole panel
SLC9A6 was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
SLC9A6 was added to Epileptic encephalopathypanel. Sources: UKGTN