ABCC6

ATP binding cassette subfamily C member 6
OMIM: 603234
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 614473
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2
R-numbers: R32
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudoxanthoma elasticum, OMIM:264800, inherited pseudoxanthoma elasticum, MONDO:0100091