Genomics England
GMS Panels
Panels
Genes and Entities

AP2S1

adaptor related protein complex 2 sigma 1 subunit
OMIM: 602242
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
AP2S1-related developmental disorder (monoallelic)
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
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R198
Signed-off version 4.18
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial hypocalciuric hypercalcemia type III 600740