RBP4

retinol binding protein 4
OMIM: 180250
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Retinol binding protein deficiency (Other disorders of vitamins and cofactors), Posterior segment abnormalities
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Achromatopsia, Cone, and Cone-rod Dystrophy, Macular Dystrophy/Degeneration/Stargardt Disease, Congenital Stationary Night Blindness, Retinitis pigmentosa
R-numbers: R36
Signed-off version 1.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147