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Mosaic brain disorders - deep sequencing

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

4 reviews

Sarah Leigh (Genomics England Curator)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 11 Oct 2023, 8:53 a.m.
Last Modified: 11 Oct 2023, 8:53 a.m.
Panel version: 0.133

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Focal cortical dysplasia; Epilepsy, familial focal, with variable foci 1, OMIM:604364

Publications

Created: 31 May 2023, 9:33 a.m.
Last Modified: 31 May 2023, 9:33 a.m.
Panel version: 0.100

Arina Puzriakova (Genomics England Curator)

Comment on mode of inheritance: Both monoallelic and biallelic (with two-hit somatic/germline) cases have been reported. This panel is suitable for picking up both variant types and therefore setting MOI to 'Both mono- and biallelic'.
Created: 22 Dec 2022, 2:57 p.m. | Last Modified: 22 Dec 2022, 2:57 p.m.
Panel Version: 0.82
Created: 22 Dec 2022, 2:57 p.m.
Last Modified: 22 Dec 2022, 2:57 p.m.
Panel version: 0.82

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 5:26 p.m. | Last Modified: 1 Feb 2023, 5:27 p.m.
Panel Version: 0.93
Review submitted on behalf of Dr Lara Menzies, Dr Wendy Jones, Dr Amy McTague. Mode of inheritance: AD, AR, Mosaic. Publications: Baldassari et al 2019 Acta Neuropathologica, Baldassari and Baulac 2019 Genetics in Medicine, Ribierre et al 2018 Journal of Clinical Investigation. Mechanism: LOF (MTOR pathway). Penetrance: variable penetrance.
Created: 21 Dec 2022, 12:16 p.m. | Last Modified: 21 Dec 2022, 12:16 p.m.
Panel Version: 0.2

Phenotypes
Epilepsy, cortical dysplasia

Created: 21 Dec 2022, 12:16 p.m.
Last Modified: 1 Feb 2023, 5:27 p.m.
Panel version: 0.93

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Epilepsy, familial focal, with variable foci 1, OMIM:604364
  • Focal cortical dysplasia
Tags
somatic
OMIM
614191
Clinvar variants
Variants in DEPDC5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2023, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to DEPDC5.

31 May 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DEPDC5 were changed from Epilepsy, familial focal, with variable foci 1, OMIM:604364 to Epilepsy, familial focal, with variable foci 1, OMIM:604364; Focal cortical dysplasia

22 Dec 2022, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: DEPDC5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

21 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

21 Dec 2022, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: DEPDC5 were set to

21 Dec 2022, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: DEPDC5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

21 Dec 2022, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: DEPDC5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

21 Dec 2022, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag somatic tag was added to gene: DEPDC5.

21 Dec 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DEPDC5 were changed from to Epilepsy, familial focal, with variable foci 1, OMIM:604364

21 Dec 2022, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: DEPDC5 was added gene: DEPDC5 was added to Mosaic brain disorders. Sources: Expert list Mode of inheritance for gene: DEPDC5 was set to