| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Monogenic Diabetes v1.15 | CP | chirag patel Marked gene: CP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v1.15 | CP | chirag patel Gene: cp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v1.15 | CP | chirag patel Classified gene: CP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v1.15 | CP | chirag patel Gene: cp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v1.14 | CP |
chirag patel gene: CP was added gene: CP was added to Monogenic Diabetes. Sources: Literature Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CP were set to 25661792 Phenotypes for gene: CP were set to Aceruloplasminemia, MONDO:0011426 Review for gene: CP was set to GREEN Added comment: ClinGen DEFINITIVE gene-disease association (Nov 2025). Aceruloplasminemia (ACEP) is an autosomal recessive disorder characterized by mild anemia (often microcytic), diabetes mellitus, retinopathy, liver disease, and progressive neurologic symptoms due to iron accumulation in the pancreas, retina, liver, and brain. Diabetes mellitus reported as first symptom related to aceruloplasminemia in 68.5% of patients (manifesting at a median age of 38.5 years). Sources: Literature |
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