Miscellaneous Metabolic Disorders
Gene: EPG5EnsemblGeneIds (GRCh38): ENSG00000152223
EnsemblGeneIds (GRCh37): ENSG00000152223
OMIM: 615068, Gene2Phenotype
EPG5 is in 16 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association (see OMIM entry). This gene is involved in autophagy, an intracellular pathway that deliver cytosolic cargo to lysosomes for degradation. Congenital disorders of autophagy are a class of inborn errors of neuro-metabolism.
Sources: NHS GMSCreated: 4 Feb 2021, 12:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vici syndrome MIM#242840; Congenital disorders of autophagy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum (ACC), cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy. Well established gene disease association, over 50 families reported.Created: 14 Oct 2020, 10:04 a.m. | Last Modified: 14 Oct 2020, 10:04 a.m.
Panel Version: 0.4910
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vici syndrome, MIM# 242840; vacuolar myopathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Vici syndrome MIM#242840
- Congenital disorders of autophagy
- OMIM
- 615068
- Clinvar variants
- Variants in EPG5
- Penetrance
- None
- Publications
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Clefting disorders
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Lysosomal Storage Disorder
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Muscular dystrophy and myopathy_Paediatric
- Fetal anomalies
- Mendeliome
- Cataract
- Prepair 500+
- Callosome
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: epg5 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: epg5 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: EPG5 was added gene: EPG5 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPG5 were set to 23222957; 26715604 Phenotypes for gene: EPG5 were set to Vici syndrome MIM#242840; Congenital disorders of autophagy Review for gene: EPG5 was set to GREEN gene: EPG5 was marked as current diagnostic