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  3. RDH5
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Structural eye disease

Gene: RDH5

Red List (low evidence)
RDH5 (retinol dehydrogenase 5)
EnsemblGeneIds (GRCh38): ENSG00000135437
EnsemblGeneIds (GRCh37): ENSG00000135437
OMIM: 601617, Gene2Phenotype
RDH5 is in 3 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: OMIM phenotype accessed 15th October 2025
Created: 15 Oct 2025, 4:23 p.m. | Last Modified: 15 Oct 2025, 4:23 p.m.
Panel Version: 4.33
Created: 15 Oct 2025, 4:23 p.m.
Last Modified: 15 Oct 2025, 4:23 p.m.
Panel version: 4.33

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Fundus albipunctatus; 136880

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Fundus albipunctatus, 136880

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Fundus albipunctatus, OMIM:136880 fundus albipunctatus, MONDO:0007639
OMIM
601617
Clinvar variants
Variants in RDH5
Penetrance
None
Panels with this gene

History Filter Activity

15 Oct 2025, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: RDH5 were changed from Fundus albipunctatus, 136880; Eye Disorders to Fundus albipunctatus, OMIM:136880 fundus albipunctatus, MONDO:0007639

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to RDH5. Mode of inheritance for gene RDH5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Fundus albipunctatus, 136880 for gene: RDH5

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: RDH5 was added gene: RDH5 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: RDH5 was set to Phenotypes for gene: RDH5 were set to Eye Disorders