Genomics England
GMS Panels
Panels
Genes and Entities

RBP4

retinol binding protein 4
OMIM: 180250
PanelMode of inheritanceDetails
4 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microphthalmia, isolated, with coloboma 10, OMIM:616428
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Retinol binding protein deficiency (Other disorders of vitamins and cofactors), Posterior segment abnormalities
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.0
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
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147