| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.134 | EPG5 | Bryony Thompson Marked gene: EPG5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.134 | EPG5 | Bryony Thompson Gene: epg5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.134 | EPG5 | Bryony Thompson Classified gene: EPG5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.134 | EPG5 | Bryony Thompson Gene: epg5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.133 | EPG5 |
Bryony Thompson gene: EPG5 was added gene: EPG5 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPG5 were set to 23222957; 26715604 Phenotypes for gene: EPG5 were set to Vici syndrome MIM#242840; Congenital disorders of autophagy Review for gene: EPG5 was set to GREEN gene: EPG5 was marked as current diagnostic Added comment: Well-established gene-disease association (see OMIM entry). This gene is involved in autophagy, an intracellular pathway that deliver cytosolic cargo to lysosomes for degradation. Congenital disorders of autophagy are a class of inborn errors of neuro-metabolism. Sources: NHS GMS |
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