| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hyperinsulinism v1.28 | CACNA1C | Zornitza Stark Marked gene: CACNA1C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.28 | CACNA1C | Zornitza Stark Gene: cacna1c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.28 | CACNA1C | Zornitza Stark Classified gene: CACNA1C as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.28 | CACNA1C | Zornitza Stark Gene: cacna1c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.27 | CACNA1C |
Zornitza Stark gene: CACNA1C was added gene: CACNA1C was added to Hyperinsulinism. Sources: Expert list Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1C were set to 35897673 Phenotypes for gene: CACNA1C were set to Hyperinsulinism, MONDO:0002177, CACNA1C-related; Timothy syndrome, MIM# 601005 Review for gene: CACNA1C was set to AMBER Added comment: PMID: 35897673 reports novel heterozygous CACNA1C variant in a patient with congenital hyperinsulinism (CHI), which appears to have gain-of-function and loss-of-function effects at the electrophysiological level, explaining the hyperinsulinism and resulting hypoglycemia in the patient reported. It appeared that c.1679T>C, p.L566P (NM_000719.6) reported in this patient has a minor effects on the cardiac action potential in an in silico model, in contrast to c.1216G>T, p.G406R (NM_000719.6) which is associated with the Long QT in Timothy syndrome (OMIM:601005). Therefore the authors conclude that this represents a novel congeital non-syndromic hyperinsulinism. Hypoglycemia is also seen in Timothy syndrome patients with c.1216G>T, p.G406R (Table S3, PMID: 35897673). Sources: Expert list |
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