Epileptic encephalopathy
Gene: GNAO1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on phenotypes: Sources: G2P and OMIM.Created: 5 Jan 2016, 12:01 p.m.
Comment on mode of inheritance: Checked the imprinted gene list, G2P and OMIM.Created: 5 Jan 2016, noon
This gene has been classified as Green List (High Evidence).
Phenotypes for GNAO1 were set to EPILEPTIC ENCEPHALOPATHY; Epileptic encephalopathy, early infantile, 17
Publications for GNAO1 were set to Nakamura (2013); Saitsu (2015)
Mode of inheritance for GNAO1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
The Gel status was updated for this whole panel
GNAO1 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
The Gel status was updated for this whole panel
GNAO1 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen