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| Lysosomal Storage Disorder v1.29 | EPG5 | Zornitza Stark Marked gene: EPG5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.29 | EPG5 | Zornitza Stark Gene: epg5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.29 | EPG5 | Zornitza Stark Phenotypes for gene: EPG5 were changed from Disorders of autophagy; Vici syndrome MONDO:0009452 to Disorders of autophagy; Vici syndrome MONDO:0009452; Neurodevelopmental disorder with parkinsonism or other movement abnormalities, MIM# 621506 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.28 | EPG5 | Zornitza Stark Publications for gene: EPG5 were set to 33674710; 34130600; 29884839 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.27 | EPG5 | Zornitza Stark reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 41053928, 36410285, 40192014; Phenotypes: Neurodevelopmental disorder with parkinsonism or other movement abnormalities, MIM# 621506; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.11 | EPG5 |
Bryony Thompson gene: EPG5 was added gene: EPG5 was added to Lysosomal Storage Disorder. Sources: Expert Review Green Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPG5 were set to 33674710; 34130600; 29884839 Phenotypes for gene: EPG5 were set to Disorders of autophagy; Vici syndrome MONDO:0009452 |
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