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| Fetal anomalies v0.3127 | PREPL | Zornitza Stark Marked gene: PREPL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3127 | PREPL | Zornitza Stark Gene: prepl has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3127 | PREPL | Zornitza Stark Phenotypes for gene: PREPL were changed from HYPOTONIA-CYSTINURIA SYNDROME to Myasthenic syndrome, congenital, 22, MIM#616224; Hypotonia-cystinuria syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3126 | PREPL | Zornitza Stark Publications for gene: PREPL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3125 | PREPL |
Zornitza Stark edited their review of gene: PREPL: Added comment: At least six unrelated individuals and bi-allelic variants of this gene; however, several are said to have normal EMG/nerve conduction studies, therefore uncertain if this is truly a myasthenic syndrome. In addition, different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. Presentation for these is post-natal.; Changed rating: AMBER; Changed publications: 29483676, 28726805, 24610330, 27472506 |
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| Fetal anomalies v0.0 | PREPL |
Zornitza Stark gene: PREPL was added gene: PREPL was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PREPL were set to HYPOTONIA-CYSTINURIA SYNDROME |
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