| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hyperinsulinism v1.6 | MPI | Zornitza Stark Publications for gene: MPI were set to PMID: 29531722; 0980531 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.5 | MPI | Zornitza Stark Classified gene: MPI as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.5 | MPI | Zornitza Stark Gene: mpi has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.21 | MPI | Zornitza Stark Marked gene: MPI as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.21 | MPI | Zornitza Stark Gene: mpi has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.21 | MPI | Zornitza Stark Classified gene: MPI as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.21 | MPI | Zornitza Stark Gene: mpi has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.20 | MPI |
Michelle de Silva gene: MPI was added gene: MPI was added to Hyperinsulinism. Sources: Expert Review Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPI were set to PMID: 29531722; 0980531 Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, MIM# 602579 Review for gene: MPI was set to AMBER Added comment: There seems to be only one reported case of an infant with hyperinsulinaemic hypoglycaemia where there is molecular association with the MPI gene (PMID: 29531722). Variants in MPI are shown to cause MPI-CDG (CDG-Ib; PMID: 0980531) and hypoglycaemia is a feature of MPI-CDG. Sources: Expert Review |
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