| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.1293 | PREPL | Zornitza Stark Marked gene: PREPL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1293 | PREPL | Zornitza Stark Gene: prepl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1293 | PREPL | Zornitza Stark Phenotypes for gene: PREPL were changed from Myasthenic syndrome, congenital, 22 MIM#616224; hypotonia-cystinuria syndrome; Disorders of amino acid transport to Myasthenic syndrome, congenital, 22 MIM#616224; hypotonia-cystinuria syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1292 | PREPL | Zornitza Stark Publications for gene: PREPL were set to 28726805; 27604308; 24610330 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1291 | PREPL | Zornitza Stark reviewed gene: PREPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 34888501; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1291 | Zornitza Stark Copied gene PREPL from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1291 | PREPL |
Zornitza Stark gene: PREPL was added gene: PREPL was added to Mitochondrial disease. Sources: Expert Review Green,Literature,Victorian Clinical Genetics Services Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PREPL were set to 28726805; 27604308; 24610330 Phenotypes for gene: PREPL were set to Myasthenic syndrome, congenital, 22 MIM#616224; hypotonia-cystinuria syndrome; Disorders of amino acid transport |
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