This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
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
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- OMIM
- 615068
- Clinvar variants
- Variants in EPG5
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Clefting
- Paediatric or syndromic cardiomyopathy
- COVID-19 research
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Vici Syndrome and other autophagy disorders
- Childhood onset dystonia, chorea or related movement disorder
- Structural eye disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Early onset or syndromic epilepsy
- Congenital myopathy
- Fetal anomalies
- DDG2P
- Likely inborn error of metabolism
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: EPG5 was added gene: EPG5 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EPG5 was set to Unknown