Malformations of cortical development

Gene: DEPDC5

Amber List (moderate evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). DEPDC5 is associated with a relevant phenotype in OMIM (MIM# 604364) and G2P ('confirmed' disease confidence rating). Sufficient number of unrelated cases (>3) with relevant phenotype (focal cortical dysplasia of variable severity) and variants in this gene to rate as Green at the next GMS panel update.
Created: 8 Sep 2021, 2:42 p.m. | Last Modified: 8 Sep 2021, 2:42 p.m.
Panel Version: 2.78

Zornitza Stark (Australian Genomics)

Green List (high evidence)

PMID: 31444548
- 5x focal cortical dysplasia patients
Sources: Expert list
Created: 27 Aug 2020, 10:32 a.m.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Epilepsy, familial focal, with variable foci 1, OMIM:604364
  • Focal cortical dysplasia
Tags
Q3_21_rating
OMIM
614191
Clinvar variants
Variants in DEPDC5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Sep 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: DEPDC5 were set to 31444548

8 Sep 2021, Gel status: 2

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

8 Sep 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: DEPDC5.

8 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: depdc5 has been classified as Amber List (Moderate Evidence).

8 Sep 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

27 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: DEPDC5 was added gene: DEPDC5 was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: DEPDC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DEPDC5 were set to 31444548 Phenotypes for gene: DEPDC5 were set to Epilepsy, familial focal, with variable foci 1 (MIM#604364) Review for gene: DEPDC5 was set to GREEN gene: DEPDC5 was marked as current diagnostic