Muscular dystrophy and myopathy_Paediatric

Gene: EPG5

Green List (high evidence)

EPG5 (ectopic P-granules autophagy protein 5 homolog)
EnsemblGeneIds (GRCh38): ENSG00000152223
EnsemblGeneIds (GRCh37): ENSG00000152223
OMIM: 615068, Gene2Phenotype
EPG5 is in 16 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Rare congenital disorder (that is reported in multiple individuals) - individuals typically present with profound psychomotor retardation and hypotonia due to myopathy.

Age of onset is typically early childhood.

PMID: 23222957
>6 individuals from unrelated families identified with mutations in EPG5 and phenotypic features related to Vici Syndrome
Sources: Other
Created: 8 May 2023, 4:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Vici Syndrome (MONDO: 0009452; MIM#242840)

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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, 10:02 a.m. | Last Modified: 14 Oct 2020, 10:02 a.m.
Panel Version: 0.269

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Vici syndrome, MIM# 242840

Publications

History Filter Activity

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: epg5 has been classified as Green List (High Evidence).

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: epg5 has been classified as Green List (High Evidence).

1 Jun 2023, Gel status: 0

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: EPG5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

8 May 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sangavi Sivagnanasundram (Melbourne Health)

gene: EPG5 was added gene: EPG5 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: EPG5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EPG5 were set to 23222957 Phenotypes for gene: EPG5 were set to Vici Syndrome (MONDO: 0009452; MIM#242840) Review for gene: EPG5 was set to GREEN