1. Panels
  2. Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
  3. DEPDC5
STRs in panel
Prev Next
Regions in panel
Prev Next

Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly

Gene: DEPDC5

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

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 31444548
- 5x focal cortical dysplasia patients
Created: 26 Aug 2020, 3:03 a.m. | Last Modified: 26 Aug 2020, 3:03 a.m.
Panel Version: 0.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Publications

Created: 26 Aug 2020, 3:03 a.m.
Last Modified: 26 Aug 2020, 3:03 a.m.
Panel version: 0.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Epilepsy, familial focal, with variable foci 1 (MIM#604364)
OMIM
614191
Clinvar variants
Variants in DEPDC5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: depdc5 has been classified as Green List (High Evidence).

26 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DEPDC5 were changed from to Epilepsy, familial focal, with variable foci 1 (MIM#604364)

26 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DEPDC5 were set to 31444548

26 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DEPDC5 were set to

26 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DEPDC5 was added gene: DEPDC5 was added to Tuberous sclerosis, cortical dysplasia and hemimegalencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: DEPDC5 was set to Unknown