Vitamin metabolism disorders

Gene: RBP3

Red List (low evidence)

RBP3 (retinol binding protein 3)
EnsemblGeneIds (GRCh38): ENSG00000265203
EnsemblGeneIds (GRCh37): ENSG00000107618
OMIM: 180290, Gene2Phenotype
RBP3 is in 4 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Retinitis pigmentosa 66 MONDO:0014093
  • Other disorders of vitamin metabolism
OMIM
180290
Clinvar variants
Variants in RBP3
Penetrance
None
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RBP3 was added gene: RBP3 was added to Vitamin metabolism disorders. Sources: Expert Review Red Mode of inheritance for gene: RBP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RBP3 were set to Retinitis pigmentosa 66 MONDO:0014093; Other disorders of vitamin metabolism