Epileptic encephalopathy
Gene: GNAO1EnsemblGeneIds (GRCh38): ENSG00000087258
EnsemblGeneIds (GRCh37): ENSG00000087258
OMIM: 139311, Gene2Phenotype
GNAO1 is in 8 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
- Nakamura (2013) Saitsu (2015)
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
- Nakamura (2013) Saitsu (2015)
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
- Nakamura (2013) Saitsu (2015)
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
- Nakamura (2013) Saitsu (2015)
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- EPILEPTIC ENCEPHALOPATHY
- Epileptic encephalopathy, early infantile, 17
- OMIM
- 139311
- Clinvar variants
- Variants in GNAO1
- Penetrance
- Complete
- Publications
-
- Nakamura (2013)
- Saitsu (2015)
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for GNAO1 were set to EPILEPTIC ENCEPHALOPATHY; Epileptic encephalopathy, early infantile, 17
Set publications
Ellen McDonagh (Genomics England Curator)Publications for GNAO1 were set to Nakamura (2013); Saitsu (2015)
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for GNAO1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gel status update
GEL ()The Gel status was updated for this whole panel
Upload gene information
Ellen McDonagh (Genomics England Curator)GNAO1 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)GNAO1 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen