| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hyperinsulinism v1.48 | ADK | Zornitza Stark Marked gene: ADK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.48 | ADK | Zornitza Stark Gene: adk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.36 | ADK | Chirag Patel Publications for gene: ADK were set to PMID: 26642971, 21963049 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.32 | ADK | Chirag Patel Classified gene: ADK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.32 | ADK | Chirag Patel Gene: adk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.31 | ADK |
Chirag Patel gene: ADK was added gene: ADK was added to Hyperinsulinism. Sources: Literature Mode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADK were set to PMID: 26642971, 21963049 Phenotypes for gene: ADK were set to Adenosine kinase deficiency MONDO:0100255 Review for gene: ADK was set to GREEN Added comment: A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism. Epileptic seizures, hypoglycemia and/or cardiac defects may be associated. PMID: 26642971 reported 11 patients from 8 families. 9/11 had recurrent hypoglycemia (4 in neonatal period). -3/9 had hyperinsulinism as the underlying cause (not studied in most other cases). -2/11 were treated with diazoxide with good response. Sources: Literature |
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