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Genetic epilepsy syndromes

Gene: DEPDC5

Green List (high evidence)

DEPDC5 (DEP domain containing 5)
EnsemblGeneIds (GRCh38): ENSG00000100150
EnsemblGeneIds (GRCh37): ENSG00000100150
OMIM: 614191, Gene2Phenotype
DEPDC5 is in 5 panels

8 reviews

Rebecca Foulger (Genomics England curator)

I don't know

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)

AD familial focal epliepsy with variable foci 1 (FFEVF) - characterised by focal seizures arising from different cortical regions in diff family members - this disorder shows incomplete penetrance. Xiong et al, 1999 - 2 lge French Canadian families - segregating a familial partial epilepsy synd with variable foci. Callenbach et al, 2003 - 4 generation Dutch family - 12 individuals had epilepsy consistent with FFEVF. Berkovic et al, 2004 - 5 gen Spanish family - 14 individuals partial seizures - Dibbens et al, 2013 reported het mutations in the cases described by the first 3 papers. Ishida et al, 2013 - 6 unrelated families with AD focal epilepsy - 6 diff het variants - 5 result in truncated protein. Picard et al, 2014 - 9 patients from 4 unrelated families with FFEVF - 4 diff het mutations identified. Two unaff members also carriers indicating incomplete penetrance. No functional work done. Schaffer et al, 2014 - 6 aff members of an Australian family - het truncating mutation.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy, familial focal, with variable foci 1,604364

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 12 variants reported
Created: 9 Apr 2018, 9:41 a.m.

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Richard Scott (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
604364

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert
Phenotypes
  • Epilepsy, familial focal, with variable foci 1 604364
OMIM
614191
Clinvar variants
Variants in DEPDC5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to DEPDC5.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to DEPDC5.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to DEPDC5. 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 DEPDC5. Panel: Genetic Epilepsy Syndromes

9 Apr 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for DEPDC5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

9 Apr 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for DEPDC5 were set to Epilepsy, familial focal, with variable foci 1 604364

9 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

9 Apr 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for DEPDC5 were set to 14510823; 15329069; 10825362; 10577924; 9851433; 23542701

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

DEPDC5 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

DEPDC5 was created by Sarah Leigh