Cerebral Palsy
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
Clare van Eyk (University of Adelaide)
1 individual reported with a homozygous stopgain variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Vici syndrome is a neurodevelopmental and immunological disorder affecting multiple systems. Structural abnormalities of the brain along with profound psychomotor retardation have been reported.
Sources: LiteratureCreated: 13 Jun 2024, 4:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vici syndrome, MIM#242840
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Vici syndrome, MIM#242840
- OMIM
- 615068
- Clinvar variants
- Variants in EPG5
- Penetrance
- None
- Publications
-
- PMID: 38693247
- 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
13 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: epg5 has been classified as Red List (Low Evidence).
13 Jun 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: epg5 has been classified as Red List (Low Evidence).
13 Jun 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: EPG5 was added gene: EPG5 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPG5 were set to PMID: 38693247 Phenotypes for gene: EPG5 were set to Vici syndrome, MIM#242840 Review for gene: EPG5 was set to RED