Congenital muscular dystrophy and congenital myopathy
Gene: EPG5EnsemblGeneIds (GRCh38): ENSG00000152223
EnsemblGeneIds (GRCh37): ENSG00000152223
OMIM: 615068, Gene2Phenotype
EPG5 is in 15 panels
4 reviews
Louise Daugherty (Genomics England Curator)
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.Created: 30 Apr 2019, 10:09 a.m.
Rachael Mein (Viapath at Guy's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
vacuolar myopathy?
Publications
Variants in this GENE are reported as part of current diagnostic practice
Helen Brittain (Genomics England Curator)
Comment when marking as ready: 18 cases, 15 families therefore sufficient evidence for causation and phenotype includes myopathy.Created: 7 Mar 2017, 4:29 p.m.
Comment on list classification: 18 cases from 15 families including myopathy as a featureCreated: 7 Mar 2017, 4:28 p.m.
Anna Sarkozy (Great Ormond Street Hospital)
Phenotypes
vacuolar myopathy?
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London South GLH
- Expert Review Green
- Expert Review
- NHS GMS
- Phenotypes
-
- Vici syndrome, OMIM:242840
- OMIM
- 615068
- Clinvar variants
- Variants in EPG5
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- COVID-19 research
- Clefting
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Vici Syndrome and other autophagy disorders
- Structural eye disease
- Childhood onset dystonia, chorea or related movement disorder
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Early onset or syndromic epilepsy
- Congenital myopathy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: EPG5 was added gene: EPG5 was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Expert Review,Expert Review Green,London South GLH Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPG5 were set to 23222957 Phenotypes for gene: EPG5 were set to Vici syndrome, OMIM:242840 Penetrance for gene: EPG5 were set to Complete