| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Congenital Diarrhoea v0.12 | MPI | Zornitza Stark Marked gene: MPI as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v0.12 | MPI | Zornitza Stark Gene: mpi has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v0.12 | MPI | Zornitza Stark Classified gene: MPI as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v0.12 | MPI | Zornitza Stark Gene: mpi has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Diarrhoea v0.11 | MPI |
Zornitza Stark gene: MPI was added gene: MPI was added to Congenital Diarrhoea. Sources: Expert Review Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPI were set to 12414827; 9585601; 10980531; 33098580; 33204592; 32905087; 32266963; 30242110 Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, MIM# 602579; MPI-CDG MONDO:0011257 Review for gene: MPI was set to GREEN Added comment: CDG Ib is clinically distinct from most other CDGs by the lack of significant central nervous system involvement. The predominant symptoms are chronic diarrhoea with failure to thrive and protein-losing enteropathy with coagulopathy. Some individuals develop hepatic fibrosis. CDG Ib is also different from other CDGs in that it can be treated effectively with oral mannose supplementation, but can be fatal if untreated. Well established gene-disease association, numerous families reported. Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||