SLC20A2

solute carrier family 20 member 2
OMIM: 158378
PanelMode of inheritanceDetails
4 panels
R-numbers: R56
Signed-off version 3.19
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Basal ganglia calcification, idiopathic, 1, OMIM:213600
R-numbers: R58
Signed-off version 5.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dystonia, Basal ganglia calcification, idiopathic, 1, OMIM:158378
R-numbers: R57
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Basal ganglia calcification, idiopathic, 1 213600, Dystonia
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Fahr syndrome, Basal ganglia calcification, idiopathic, 1, 213600, Familial Idiopathic Basal Ganglia Calcification