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  2. Familial Focal Epilepsies
  3. DEPDC5
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Familial Focal Epilepsies

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

1 review

Richard Scott (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
604364

Publications

Created: 7 Feb 2016, 7:06 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, familial focal, with variable foci
  • 604364
OMIM
614191
Clinvar variants
Variants in DEPDC5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

24 Aug 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

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

24 Aug 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

7 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

7 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

DEPDC5 was added to Familial focal epilepsypanel. Sources: Radboud University Medical Center, Nijmegen