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Epileptic encephalopathy

Gene: ARHGEF9

Green List (high evidence)

ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9)
EnsemblGeneIds (GRCh38): ENSG00000131089
EnsemblGeneIds (GRCh37): ENSG00000131089
OMIM: 300429, Gene2Phenotype
ARHGEF9 is in 4 panels

5 reviews

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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)

Green List (high evidence)

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

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Dec 2015, Gel status: 4

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

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

Upload gene information

Antonio Rueda (GEL)

ARHGEF9 was added to Epileptic encephalopathypanel. Sources: Expert Review Green

13 Nov 2015, Gel status: 2

Upload gene information

Ellen McDonagh (Genomics England Curator)

ARHGEF9 was added to Epileptic encephalopathypanel. Sources: Expert Review Green

1 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ARHGEF9 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert

1 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ARHGEF9 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ARHGEF9 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert