This Panel is marked as Retired
Epileptic encephalopathy
Gene: EPG5
EPG5 (ectopic P-granules autophagy protein 5 homolog)
EnsemblGeneIds (GRCh38): ENSG00000152223
EnsemblGeneIds (GRCh37): ENSG00000152223
OMIM: 615068, Gene2Phenotype
EPG5 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000152223
EnsemblGeneIds (GRCh37): ENSG00000152223
OMIM: 615068, Gene2Phenotype
EPG5 is in 15 panels
1 review
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
-
- Expert Review Green
- Expert Review
- 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
-
- Likely inborn error of metabolism
- COVID-19 research
- Clefting
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Vici Syndrome and other autophagy disorders
- Structural eye disease
- Childhood onset dystonia, chorea or related movement disorder
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Early onset or syndromic epilepsy
- Congenital myopathy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
History Filter Activity
28 Jul 2017, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
28 Jul 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)EPG5 was created by ellenmcdonagh
28 Jul 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)EPG5 was added to Epileptic encephalopathypanel. Sources: Expert Review