| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hyperinsulinism v0.3 | INSR | Zornitza Stark Marked gene: INSR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.3 | INSR | Zornitza Stark Gene: insr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.3 | INSR | Zornitza Stark Classified gene: INSR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.3 | INSR | Zornitza Stark Gene: insr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.2 | INSR |
Zornitza Stark gene: INSR was added gene: INSR was added to Hyperinsulinism. Sources: Expert Review Mode of inheritance for gene: INSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: INSR were set to 15161766; 26691667; 31989990 Phenotypes for gene: INSR were set to Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968 Review for gene: INSR was set to GREEN Added comment: Monoallelic variants cause hyperinsulinaemic hypoglycaemia; only one family reported with bi-allelic variants and atypical presentation of Rabson-Mendenhall syndrome. Sources: Expert Review |
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