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| Hyperinsulinism v1.18 | CACNA1D | Chirag Patel edited their review of gene: CACNA1D: Added comment: 2nd case reported of child with persistent diazoxide-responsive HH, mild aortic insufficiency, severe hypotonia, and developmental delay. WES identified a de novo CACNA1D mutation (p.G403D). CACNA1D encodes the main L-type voltage-gated calcium channel in the pancreatic β-cell, a key component of the insulin secretion pathway. The p.G403D mutation had been reported previously as an activating mutation in an individual with primary hyper-aldosteronism, neuromuscular abnormalities, and transient hypoglycaemia.; Changed mode of pathogenicity: Other; Changed phenotypes: hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.12 | CACNA1D | Chirag Patel Classified gene: CACNA1D as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.12 | CACNA1D | Chirag Patel Gene: cacna1d has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.11 | CACNA1D | Chirag Patel reviewed gene: CACNA1D: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32336187; Phenotypes: congenital hyperinsulinism, primary hyperaldosteronism, and neurologic abnormalities; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.22 | CACNA1D | Zornitza Stark Marked gene: CACNA1D as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.22 | CACNA1D | Zornitza Stark Gene: cacna1d has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v0.22 | CACNA1D |
Zornitza Stark gene: CACNA1D was added gene: CACNA1D was added to Hyperinsulinism. Sources: Expert list Mode of inheritance for gene: CACNA1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1D were set to 28318089; 23913001 Phenotypes for gene: CACNA1D were set to Hyperinsulinism; heart defect; hypotonia Mode of pathogenicity for gene: CACNA1D was set to Other Review for gene: CACNA1D was set to RED Added comment: GoF de novo variant reported in infant with persistent hyperinsulinaemia, congenital heart disease and hypotonia. Same variant reported in another individual with some overlapping features and transient hypoglycaemia in the newborn period; however, hyperinsulinaemia not confirmed in this other individual. Sources: Expert list |
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