Epileptic encephalopathy
Gene: ARHGEF9EnsemblGeneIds (GRCh38): ENSG00000131089
EnsemblGeneIds (GRCh37): ENSG00000131089
OMIM: 300429, Gene2Phenotype
ARHGEF9 is in 3 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Captured from expert review.Created: 17 Dec 2015, 11:25 a.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert
- UKGTN
- Radboud University Medical Center, Nijmegen
- OMIM
- 300429
- Clinvar variants
- Variants in ARHGEF9
- Penetrance
- Complete
- 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 Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ARHGEF9 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
gel status update
GEL ()The Gel status was updated for this whole panel
gel status update
GEL ()The Gel status was updated for this whole panel
Upload gene information
Antonio Rueda (GEL)ARHGEF9 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
Upload gene information
Ellen McDonagh (Genomics England Curator)ARHGEF9 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
Added New Source
Ellen McDonagh (Genomics England Curator)ARHGEF9 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)ARHGEF9 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)ARHGEF9 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert