Vitamin metabolism disorders

Gene: RBP4

Green List (high evidence)

RBP4 (retinol binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000138207
EnsemblGeneIds (GRCh37): ENSG00000138207
OMIM: 180250, Gene2Phenotype
RBP4 is in 6 panels

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Other disorders of vitamin metabolism
  • microphthalmia, isolated, with coloboma 10 MONDO:0014635
OMIM
180250
Clinvar variants
Variants in RBP4
Penetrance
None
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: RBP4 was added gene: RBP4 was added to Vitamin metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: RBP4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RBP4 were set to Other disorders of vitamin metabolism; microphthalmia, isolated, with coloboma 10 MONDO:0014635