RBP4

retinol binding protein 4
OMIM: 180250, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Red RBP4 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.45	review	Not set	Sources Expert Review Green NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Amber RBP4 in Ocular coloboma Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.47	review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Literature Phenotypes Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147
Green RBP4 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Retinol binding protein deficiency (Other disorders of vitamins and cofactors) Posterior segment abnormalities
Green RBP4 in Likely inborn error of metabolism - targeted testing not possible Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Retinol binding protein deficiency (Other disorders of vitamins and cofactors) Posterior segment abnormalities
Green RBP4 in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 5.4 Latest signed off version: v5.0 (1 May 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Macular Dystrophy/Degeneration/Stargardt Disease Congenital Stationary Night Blindness Retinitis pigmentosa
Green RBP4 in Structural eye disease Version 3.79 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147
Red RBP4 in Childhood onset dystonia, chorea or related movement disorder Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources Expert Review Red London North GLH