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| Hyperinsulinism v1.11 | PGM1 | Chirag Patel Classified gene: PGM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.11 | PGM1 | Chirag Patel Gene: pgm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.10 | PGM1 |
Chirag Patel gene: PGM1 was added gene: PGM1 was added to Hyperinsulinism. Sources: Literature Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGM1 were set to PMID: 24499211, 27206562 Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It, OMIM# 614921 Review for gene: PGM1 was set to GREEN gene: PGM1 was marked as current diagnostic Added comment: Well established gene-disease association. Individuals can present with hypoglycaemia (+/- hyperinsulinism) and may not have all the syndromic features at presentation. Sources: Literature |
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