Cataract
Gene: EPG5
EPG5 (ectopic P-granules autophagy protein 5 homolog)
EnsemblGeneIds (GRCh38): ENSG00000152223
EnsemblGeneIds (GRCh37): ENSG00000152223
OMIM: 615068, Gene2Phenotype
EPG5 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000152223
EnsemblGeneIds (GRCh37): ENSG00000152223
OMIM: 615068, Gene2Phenotype
EPG5 is in 16 panels
1 review
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.
Sources: Expert ReviewCreated: 14 Oct 2020, 10:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vici syndrome, MIM# 242840
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Vici syndrome, MIM# 242840
- 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
14 Oct 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: epg5 has been classified as Green List (High Evidence).
14 Oct 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: epg5 has been classified as Green List (High Evidence).
14 Oct 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: EPG5 was added gene: EPG5 was added to Cataract. Sources: Expert Review Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPG5 were set to 23222957; 26917586 Phenotypes for gene: EPG5 were set to Vici syndrome, MIM# 242840 Review for gene: EPG5 was set to GREEN