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Genetic epilepsy syndromes

Gene: DENND5A

Green List (high evidence)

DENND5A (DENN domain containing 5A)
EnsemblGeneIds (GRCh38): ENSG00000184014
EnsemblGeneIds (GRCh37): ENSG00000184014
OMIM: 617278, Gene2Phenotype
DENND5A is in 5 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR EIEE 49 - Onset of seizures in the neonatal period. Han et al, 2016 - 4 children from 2 unrelated consang families (Saudi and Jordian descent) - hom fs mutations identified - segregated with disease in the families, no functional work done, however knockdown of Dennd5a in cultured neuronal cells done. Anazi et al, 2017 - 2 unrelated girls each born of consang parents - intractable seizures in first few days of life - hom variants - 1 missense, 1 fs.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
pileptic encephalopathy early infantile, 617281

Publications

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on list classification: Updated rating from Amber to Green: Although only Probable confidence level in DD-G2P for EPILEPTIC ENCEPHALOPATHY, there are suffcient cases from PMIDs 27866705 and 27431290 (5 individuals from 4 unrelated families) to support gene:disease association and diagnostic rating.
Created: 22 Nov 2018, 2:53 p.m.
In 3 patients from 2 unrelated consanguineous families (from Saudi Arabia and Jordan) with early infantile epileptic encephalopathy-49, Han et al. (2016, PMID:27866705) identified homozygous frameshift mutations in the DENND5A gene (c.517_518delGA, resulting in a frameshift and premature termination Asp173ProfsTer8 and c.2547delG resulting in a frameshift and premature termination Lys850SerfsTer11).

In 2 unrelated girls, each born of consanguineous parents, with EIEE49, Anazi et al. (2017, PMID:27431290) identified homozygous mutations in the DENND5A gene (c.1622A-G, NM_015213.3, D541G).
Created: 22 Nov 2018, 2:48 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

5 patients from 4 unrelated families reported with bi-allelic variants in this gene and epileptic encephalopathy.
Created: 12 Aug 2018, 6:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 49, MIM#617281

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 49, 617281
OMIM
617278
Clinvar variants
Variants in DENND5A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to DENND5A.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to DENND5A.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: 5 patients from 4 unrelated fa

22 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: dennd5a has been classified as Green List (High Evidence).

22 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: dennd5a has been classified as Green List (High Evidence).

22 Nov 2018, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: dennd5a has been classified as Amber List (Moderate Evidence).

22 Nov 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: DENND5A were set to

22 Nov 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: DENND5A was changed from to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: DENND5A were changed from to Epileptic encephalopathy, early infantile, 49, 617281

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to DENND5A. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

DENND5A was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

DENND5A was created by Sarah Leigh