Epileptic encephalopathy
Gene: KCNJ10
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Confirmed DD gene and all reviewers agree.Created: 20 Jan 2016, 12:22 p.m.
Comment on phenotypes: Sourced from G2P and OMIM.Created: 20 Jan 2016, 12:21 p.m.
Comment on mode of inheritance: Confirmed on G2P.Created: 20 Jan 2016, 12:20 p.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for KCNJ10 were set to SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE (SESAME); SESAME syndrome
Publications for KCNJ10 were set to Scholl et al (2009)
Mode of inheritance for KCNJ10 was changed to BIALLELIC, autosomal or pseudoautosomal
The Gel status was updated for this whole panel
KCNJ10 was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
KCNJ10 was added to Epileptic encephalopathypanel. Sources: Expert