| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Pituitary hormone deficiency v1.6 | PREPL | chirag patel Publications for gene: PREPL were set to 28726805; 27604308; 24610330; 34888501 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v1.5 | PREPL | chirag patel reviewed gene: PREPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 28726805, 32218803, 34693706; Phenotypes: Myasthenic syndrome, congenital, 22 MIM#616224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v1.5 | chirag patel Copied gene PREPL from panel Mitochondrial disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v1.5 | PREPL |
chirag patel gene: PREPL was added gene: PREPL was added to Pituitary hormone deficiency. Sources: Expert Review Green,Victorian Clinical Genetics Services,Literature,Literature Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PREPL were set to 28726805; 27604308; 24610330; 34888501 Phenotypes for gene: PREPL were set to Myasthenic syndrome, congenital, 22 MIM#616224; hypotonia-cystinuria syndrome |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||