Epileptic encephalopathy
Gene: KCNQ3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: A confirmed DD gene, and all reviewers agree this should be green for this panel. Missense/in frame variants in this gene cause the disorder (G2P).Created: 20 Jan 2016, 12:32 p.m.
Comment on phenotypes: Sourced from OMIM.Created: 20 Jan 2016, 12:31 p.m.
Comment on mode of inheritance: Monoallelic confirmed on G2P and OMIM. Not on the imprinted gene list.Created: 20 Jan 2016, 12:30 p.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for KCNQ3 were set to Seizures, benign neonatal, type 2
Phenotypes for KCNQ3 were set to Seizures, benign neonatal, type 2;
Mode of inheritance for KCNQ3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
The Gel status was updated for this whole panel
KCNQ3 was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
KCNQ3 was added to Epileptic encephalopathypanel. Sources: Expert