Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Congenital Hemangioma |
R-numbers: R151 Signed-off version 3.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Hypocalcemia, autosomal dominant 2, OMIM:615361, Hypocalciuric hypercalcemia, type II, OMIM:145981 |
Green in Familial hypoparathyroidismR-numbers: R153 Signed-off version 2.14 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Hypocalcemia, autosomal dominant 2, 615361, hypercalcemia, type II, 145981 |
R-numbers: R327 Signed-off version 2.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Phakomatosis pigmentovascularis, Extensive dermal melanocytosis |
Green in Renal tubulopathiesR-numbers: R198 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Hypocalcemia, autosomal dominant 2 615361 |
R-numbers: R257 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Hypocalcemia, autosomal dominant 2 615361 |