Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
R-numbers: R151 Signed-off version 3.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Hypoparathyroidism, familial isolated (146200), Hyperparathyroidism 4 (617343) |
Green in Familial hypoparathyroidismR-numbers: R153 Signed-off version 2.14 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Hypoparathyroidism, familial isolated, 146200 |