AP2S1

adaptor related protein complex 2 sigma 1 subunit
OMIM: 602242
PanelMode of inheritanceDetails
2 panels
R-numbers: R151
Signed-off version 4.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypocalciuric hypercalcemia, type III, OMIM:600740
R-numbers: R198
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial hypocalciuric hypercalcemia type III 600740