Genes in panel
STRs in panel
Prev Next

Primary immunodeficiency

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

6 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Created: 14 Oct 2020, 12:43 p.m. | Last Modified: 14 Oct 2020, 12:43 p.m.
Panel Version: 2.246
The following PubMed IDs were added to gene EPG5 (OMIM gene MIM#615068): 25331754;28168853;23222957. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.
Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208

Publications

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
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • Combined B and T cell defect v1.12
Phenotypes
  • Vici syndrome, 242840
  • Immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
  • Vici syndrome
  • syndromic phenotype (immunodeficiency variable)
  • Vici syndrome due to EPG5 deficiency
  • Agenesis of the corpus callosum, cataracts, cardiomyopathy, skin hypopigmentation, intellectual disability, microcephaly, recurrent infections, chronic mucocutaneous candidiasis
  • Combined immunodeficiencies with associated or syndromic features
OMIM
615068
Clinvar variants
Variants in EPG5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: epg5 has been classified as Green List (High Evidence).

13 Oct 2020, Gel status: 1

Added New Source, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

Source Other was added to EPG5. Publications for gene EPG5 were updated from 23222957; 25331754; 26917586; 26395118; 23838600; 23674064; 28624465 to 23674064; 28624465; 26917586; 28168853; 26395118; 23222957; 23838600; 25331754 Rating Changed from Green List (high evidence) to Red List (low evidence)

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to EPG5.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to EPG5.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to EPG5.

12 Jul 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene EPG5 were set to Vici syndrome, 242840, Immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum, Vici syndrome, syndromic phenotype (immunodeficiency variable), Vici syndrome due to EPG5 deficiency, Agenesis of the corpus callosum, cataracts, cardiomyopathy, skin hypopigmentation, intellectual disability, microcephaly, recurrent infections, chronic mucocutaneous candidiasis, Combined immunodeficiencies with associated or syndromic features

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to EPG5. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to EPG5. Panel: Primary immunodeficiency disorders

13 Jun 2018, Gel status: 4

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: epg5 has been classified as Green List (High Evidence).

13 Jun 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: EPG5 were set to Vici syndrome, 242840; Immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum; Vici syndrome; syndromic phenotype (immunodeficiency variable); Vici syndrome due to EPG5 deficiency

13 Jun 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: EPG5 were set to Vici syndrome, 242840; Immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum; Vici syndrome; syndromic phenotype (immunodeficiency variable)

17 Apr 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene EPG5 were set to Vici syndrome, 242840, Immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum, Vici syndrome

17 Apr 2018, Gel status: 4

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

GRID V2.0 was added to EPG5. Panel: Primary immunodeficiency disorders Phenotypes for gene EPG5 were set to Vici syndrome, 242840, Immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum, Vici syndrome

11 Apr 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for EPG5 were set to Vici syndrome, 242840; Immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum

29 Mar 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

EPG5 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, Combined B and T cell defect v1.12

29 Mar 2018, Gel status: 4

Created

Louise Daugherty (Genomics England Curator)

EPG5 was created by Louise Daugherty