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Retinal disorders

Gene: RDH5

Green List (high evidence)

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

4 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Comment on publications: Added publications suggested from external expert review
Created: 13 Jul 2018, 4:03 p.m.
Comment on mode of inheritance: updated MOI from external expert review and OMIM
Created: 13 Jul 2018, 4:02 p.m.

Panagiotis Sergouniotis (Academic Clinic Fellow)

Green List (high evidence)

https://www.omim.org/entry/601617
Created: 1 Jun 2018, 6:05 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:05 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Congenital Stationary Night Blindness
  • Fundus albipunctatus, 136880
  • Fundus albipunctatus
OMIM
601617
Clinvar variants
Variants in RDH5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to RDH5. Rating Changed from Green List (high evidence) to Green List (high evidence)

13 Jul 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: RDH5 were set to 21529959

13 Jul 2018, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: RDH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

22 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for RDH5 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

9 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RDH5 was set to BIALLELIC, autosomal or pseudoautosomal

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RDH5 was created by ellenmcdonagh

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

RDH5 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green