Activity
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6 actions
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| Miscellaneous Metabolic Disorders v0.324 | PREPL | Bryony Thompson Marked gene: PREPL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.324 | PREPL | Bryony Thompson Gene: prepl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.324 | PREPL | Bryony Thompson Classified gene: PREPL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.324 | PREPL | Bryony Thompson Gene: prepl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.323 | PREPL | Bryony Thompson edited their review of gene: PREPL: Changed publications: 28726805, 27604308, 24610330 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.323 | PREPL |
Bryony Thompson gene: PREPL was added gene: PREPL was added to Miscellaneous Metabolic Disorders. Sources: Literature SV/CNV tags were added to gene: PREPL. Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PREPL were set to 28726805; 27604308 Phenotypes for gene: PREPL were set to Myasthenic syndrome, congenital, 22 MIM#616224; hypotonia-cystinuria syndrome; Disorders of amino acid transport Review for gene: PREPL was set to GREEN Added comment: 5 cases with isolated PREPL deficiency, 3 with hypotonia-cystinuria syndrome, and 2 with atypical hypotonia-cystinuria syndrome Sources: Literature |
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