Congenital myopathy

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

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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)

Green List (high evidence)

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 feature
Created: 7 Mar 2017, 4:28 p.m.

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

Phenotypes
vacuolar myopathy?

History Filter Activity

30 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to EPG5.

30 Apr 2019, Gel status: 3

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)

7 Mar 2017, Gel status: 4

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for EPG5 was changed to BIALLELIC, autosomal or pseudoautosomal

7 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Mar 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for EPG5 were set to 23222957

7 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Mar 2017, Gel status: 0

Added New Source

Anna Sarkozy (Great Ormond Street Hospital)

EPG5 was added to Congenital myopathypanel. Sources: Expert Review

6 Mar 2017, Gel status: 0

Created

Anna Sarkozy (Great Ormond Street Hospital)

EPG5 was created by anna.sarkozy