Genomics England
GMS Panels
Panels
Genes and Entities

AP2S1

adaptor related protein complex 2 sigma 1 subunit
OMIM: 602242
PanelMode of inheritanceDetails
2 panels
Green
in Familial hyperparathyroidism or hypocalciuric hypercalcaemia
R-numbers: R151
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypocalciuric hypercalcemia, type III, OMIM:600740
Green
in Renal tubulopathies
R-numbers: R198
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial hypocalciuric hypercalcemia type III 600740