Vitamin metabolism disorders

Gene: RDH5

Green List (high evidence)

RDH5 (retinol dehydrogenase 5)
EnsemblGeneIds (GRCh38): ENSG00000135437
EnsemblGeneIds (GRCh37): ENSG00000135437
OMIM: 601617, Gene2Phenotype
RDH5 is in 4 panels

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Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fundus albipunctatus
  • Other disorders of vitamin metabolism
OMIM
601617
Clinvar variants
Variants in RDH5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RDH5 was added gene: RDH5 was added to Vitamin metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: RDH5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RDH5 were set to 32232344; 10369264 Phenotypes for gene: RDH5 were set to Fundus albipunctatus; Other disorders of vitamin metabolism