Epileptic encephalopathy
Gene: SLC13A5
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: All reviewers agree, and mode of inheritance and loss of function mechanism confirmed on G2P/OMIM.Created: 29 Jan 2016, 2:51 p.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for SLC13A5 were set to Epileptic encephalopathy, early infantile, 25
The Gel status was updated for this whole panel
SLC13A5 was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
This proposed gene was validated and added to this panel
SLC13A5 was added to Epileptic encephalopathypanel. Sources: Expert Review
SLC13A5 was created by Reviewer_03