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Genetic epilepsy syndromes

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

8 reviews

Helen Lord (Oxford Medical Genetics Laboratories)

Green List (high evidence)

Marco et al, 2008 (17893116) female with a balanced paracentric inversion disrupting one allele of the ARHGEF9 gene between exons 1 and 3 who had EIEE8 - completely skewed X-inactivation in favour of the abnormal X chromosome
Created: 5 Sep 2019, 2:22 p.m. | Last Modified: 5 Sep 2019, 2:22 p.m.
Panel Version: 1.261

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Rebecca Foulger (Genomics England curator)

I don't know

Comment on mode of inheritance: Updated Mode of Inheritance from XLR to XLD based on Post-Webex review by Helen Lord.
Created: 7 Sep 2019, 10:33 a.m. | Last Modified: 7 Sep 2019, 10:33 a.m.
Panel Version: 1.268
Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.
Created: 5 Sep 2019, 2:26 p.m. | Last Modified: 5 Sep 2019, 2:26 p.m.
Panel Version: 1.262
Comment on mode of inheritance: OMIM lists XLR mode of inheritance for 'Epileptic encephalopathy, early infantile, 8' (MIM:300607). Gene2Phenotype lists hemizygous mode of inheritance (XLR) for EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8.
Created: 13 Aug 2019, 1:28 p.m. | Last Modified: 13 Aug 2019, 1:28 p.m.
Panel Version: 1.212
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

XLR EIEE8. Harvey et al, 2004 - boy with hyperkeplexia and epilepsy - het missense variant. Shimojima et al, 2011 - Japanese boy with X linked MR and epilepsy - LOF nonsense variant. Other missense/nonesense/splicing variants - 12 in total on HGMD pro. Also gross dels have a phenotype including epilepsy. Functional characterisaton of the R290H variant Papadopoulos et al, 2015.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Epileptic encephalopathy, early infantile, 8, 300607

Publications

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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert
Phenotypes
  • Epileptic encephalopathy, early infantile, 8 300607
OMIM
300429
Clinvar variants
Variants in ARHGEF9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: arhgef9 has been classified as Green List (High Evidence).

7 Sep 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: ARHGEF9 were set to 21633362; 15215304

7 Sep 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: ARHGEF9 were set to

7 Sep 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: ARHGEF9 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

13 Aug 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: ARHGEF9 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to ARHGEF9.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ARHGEF9.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment on mode of inheritance

8 Nov 2018, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ARHGEF9 were changed from to Epileptic encephalopathy, early infantile, 8 300607

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to ARHGEF9. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to ARHGEF9. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

ARHGEF9 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,UKGTN,Radboud University Medical Center, Nijmegen

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

ARHGEF9 was created by Sarah Leigh