Fetal anomalies
Gene: DEPDC5

DEPDC5 (DEP domain containing 5)
EnsemblGeneIds (GRCh38): ENSG00000100150
EnsemblGeneIds (GRCh37): ENSG00000100150
OMIM: 614191, Gene2Phenotype
DEPDC5 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Cortical dysplasia reported.
Created: 2 Mar 2022, 11:51 p.m. | Last Modified: 2 Mar 2022, 11:51 p.m.

Panel Version: 0.4683

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

31444548

Created: 2 Mar 2022, 11:51 p.m.
Last Modified: 2 Mar 2022, 11:51 p.m.
Panel version: 0.4683

Belinda Chong (Victorian Clinical Genetics Services)

Red List (low evidence)

Postnatal onset.

Multiple reports, variable age at onset (range infancy to adulthood).

Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and some patients have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. Penetrance of the disorder is incomplete (summary by Klein et al., 2012). Detailed electrophysiologic, brain imaging, and/or histologic studies have indicated that some patients have subtle or clear evidence of focal cortical dysplasia (FCD)
Created: 14 Feb 2022, 5:22 a.m. | Last Modified: 14 Feb 2022, 5:22 a.m.

Panel Version: 0.3400

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Feb 2022, 5:22 a.m.
Last Modified: 14 Feb 2022, 5:22 a.m.
Panel version: 0.3400

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Epilepsy, familial focal, with variable foci 1 MIM#604364

OMIM

614191

Clinvar variants

Variants in DEPDC5

Penetrance

None

Publications

Panels with this gene