Vici Syndrome and other autophagy disorders
Gene: EPG5EnsemblGeneIds (GRCh38): ENSG00000152223
EnsemblGeneIds (GRCh37): ENSG00000152223
OMIM: 615068, Gene2Phenotype
EPG5 is in 15 panels
3 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Two reviewers agree this gene should be green, and it is a confirmed DD gene for IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM.Created: 20 Apr 2016, 8:25 a.m.
Mode of inheritance from UKGTN source.Created: 14 Jul 2015, 1:06 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Vici syndrome, 242840
- IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
- OMIM
- 615068
- Clinvar variants
- Variants in EPG5
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Dilated Cardiomyopathy and conduction defects
- Vici Syndrome and other autophagy disorders
- Clefting
- COVID-19 research
- Likely inborn error of metabolism
- Congenital myopathy
- Structural eye disease
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31st July 2017: Panel revised according to external review and input, further curation and internal clinical input.
Set publications
Ellen McDonagh (Genomics England Curator)Publications for EPG5 were set to PMID: 23222957; 25331754; 26917586; 26395118; 23838600; 23674064; 28624465
Set publications
Ellen McDonagh (Genomics England Curator)Publications for EPG5 were set to PMID: 23222957; 25331754; 26917586; 26395118; 23838600; 23674064
Set publications
Ellen McDonagh (Genomics England Curator)Publications for EPG5 were set to PMID: 23222957; 25331754; 26917586; 26395118; 23838600; 23674064
Set publications
Ellen McDonagh (Genomics England Curator)Publications for EPG5 were set to PMID: 23222957; 25331754; 26917586; 26395118; 23838600
Set publications
Ellen McDonagh (Genomics England Curator)Publications for EPG5 were set to PMID: 23222957; 25331754; 26917586
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for EPG5 were set to Vici syndrome, 242840; IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for EPG5 were set to PMID: 23222957; 25331754
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()EPG5 was added to Vici Syndrome and other autophagy disorderspanel. Sources: UKGTN
Added New Source
GEL ()EPG5 was added to Vici Syndrome and other autophagy disorderspanel. Sources: Radboud University Medical Center, Nijmegen