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| Hyperinsulinism v1.15 | CREBBP | Chirag Patel Classified gene: CREBBP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.15 | CREBBP | Chirag Patel Gene: crebbp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.14 | CREBBP |
Chirag Patel gene: CREBBP was added gene: CREBBP was added to Hyperinsulinism. Sources: Literature Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CREBBP were set to PMID: 31137009, 33442921, 2240025, 31414570, 33043588 Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome 1, OMIM #180849 Review for gene: CREBBP was set to GREEN gene: CREBBP was marked as current diagnostic Added comment: Established gene-disease association. Hyperinsulinaemic hypoglycaemia reported in less than 5%. Sources: Literature |
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