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STRs in panel
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COVID-19 research

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 17 panels

5 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
syndromic phenotype (immunodeficiency variable)

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): EPG5 .PanelApp HGNC gene symbol check: EPG5 . IUIS Disease: Vici syndrome due to EPG5 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Defective, .IUIS Other affected cells: N/A. IUIS Associated features: Agenesis of the corpus callosum, cataracts, cardiomyopathy, skin hypopigmentation, intellectual disability, microcephaly, recurrent infections, chronic mucocutaneous candidiasis. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: Other Combined immunodeficiencies with associated or syndromic features
Created: 2 Jul 2018, 10:35 a.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 13 Jun 2018, 1:55 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: EPG5, GRID_Gene_Symbol: EPG5, GRID_Transcript_ENS_Community submitted: ENST00000282041, GRID_Transcript_RefSeq: NM_020964.2, GRID_Transcript_ENS_used_on_Production: ENST00000282041
Created: 17 Apr 2018, 12:12 p.m.

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, 2:27 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
Phenotypes
  • Vici syndrome
  • Vici syndrome due to EPG5 deficiency
  • Vici syndrome, 242840
  • Agenesis of the corpus callosum, cataracts, cardiomyopathy, skin hypopigmentation, intellectual disability, microcephaly, recurrent infections, chronic mucocutaneous candidiasis
  • Immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
  • syndromic phenotype (immunodeficiency variable)
  • Combined immunodeficiencies with associated or syndromic features
OMIM
615068
Clinvar variants
Variants in EPG5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: EPG5 was added gene: EPG5 was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPG5 were set to 23222957; 23838600; 25331754; 26395118; 23674064; 26917586; 28624465 Phenotypes for gene: EPG5 were set to Vici syndrome; Vici syndrome due to EPG5 deficiency; Vici syndrome, 242840; Agenesis of the corpus callosum, cataracts, cardiomyopathy, skin hypopigmentation, intellectual disability, microcephaly, recurrent infections, chronic mucocutaneous candidiasis; Immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum; syndromic phenotype (immunodeficiency variable); Combined immunodeficiencies with associated or syndromic features