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
-
- NHS GMS
- London South GLH
- Expert Review Green
- Phenotypes
-
- Vici syndrome, OMIM:242840
- OMIM
- 615068
- Clinvar variants
- Variants in EPG5
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Dilated Cardiomyopathy and conduction defects
- Vici Syndrome and other autophagy disorders
- Clefting
- COVID-19 research
- Likely inborn error of metabolism
- Congenital myopathy
- Structural eye disease
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: EPG5 were changed from vacuolar myopathy? to Vici syndrome, OMIM:242840
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to EPG5.
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source London South GLH was added to EPG5. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for EPG5 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for EPG5 were set to 23222957
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Anna Sarkozy (Great Ormond Street Hospital)EPG5 was created by anna.sarkozy
Added New Source
Anna Sarkozy (Great Ormond Street Hospital)EPG5 was added to Congenital myopathypanel. Sources: Expert Review