This panel contains genes associated with familial hypocalciuric hypercalcaemia. It includes genes from the Genomics England PanelApp 'familial hyperparathyroidism or hypocalciuric hypercalcaemia' panel V3.6.
Zornitza Stark (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
| List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Green List (high evidence) |
AP2S1 |
2 reviews2 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
CASR |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
GNA11 |
1 review1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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