Genomics England
GMS Panels
Panels
Genes and Entities

ABCC6

ATP binding cassette subfamily C member 6
OMIM: 603234
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arterial calcification, generalized, of infancy, 2, OMIM:614473
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arterial calcification, generalized, of infancy, 2, OMIM:614473
Green
in Generalised arterial calcification in infancy
R-numbers: R384
Signed-off version 1.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Arterial calcification, generalized, of infancy, 2, OMIM:614473, arterial calcification, generalized, of infancy, 2, MONDO:0013768
Green
in Pseudoxanthoma elasticum
R-numbers: R420
Signed-off version 1.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudoxanthoma elasticum, OMIM:264800, autosomal recessive inherited pseudoxanthoma elasticum, MONDO:0009925
Green
in Retinal disorders
R-numbers: R32
Signed-off version 9.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pseudoxanthoma elasticum, OMIM:264800, inherited pseudoxanthoma elasticum, MONDO:0100091