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Genetic epilepsy syndromes

Gene: EPG5

Green List (high evidence)

EPG5 (ectopic P-granules autophagy protein 5 homolog)
EnsemblGeneIds (GRCh38): ENSG00000152223
EnsemblGeneIds (GRCh37): ENSG00000152223
OMIM: 615068, Gene2Phenotype
EPG5 is in 15 panels

3 reviews

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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR Vici syndrome - rare congenital multisystem disorder characterised by agenesis of corpus callosum (ACC), cataracts, pigmentary defects, progressive cardiomyopathy and variable immunodeficiency. Seizures have been reported as a variable feature - Cullup et al, 2013. Ehmke et al, 2014 - review of the clinical features of all 27 reported patients - 13/27 had seizures s part of the phenotype (~50%). Cullup et al, 2013 - in 16 patients from 13 unrelated families hom/compound het variants identifed. 9 had been prev reportedall mutations truncating or splice site except for 2 missense. in 2 families no variant was detected. Ehmke et al 2014 - Iranian child with consng parents - hom truncating variant. Mallard et al, 2017 - affected girl comound het for a missense and a 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
Vici syndrome,242840

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Added to this panel due to input from Arianna Tucci (Genomics England Clinical Team), after reviewing the Vici panel.
Created: 28 Jul 2017, 2:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Vici syndrome, 242840; IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review
  • Expert Review Green
Phenotypes
  • Vici syndrome, 242840
  • IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
OMIM
615068
Clinvar variants
Variants in EPG5
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 EPG5.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to EPG5.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment on list classification

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to EPG5. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

EPG5 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert Review

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

EPG5 was created by Sarah Leigh