Genes in panel

STRs in panel

Prev Next

Regions in panel

Prev Next

Congenital Stationary Night Blindness
Gene: RDH5

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Main features are fleck retina and night blindness. More than 20 families with bi-allelic disease reported, older reports of mono-allelic disease.
Created: 27 Oct 2021, 4:58 a.m. | Last Modified: 27 Oct 2021, 4:58 a.m.

Panel Version: 0.17

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Fundus albipunctatus (MIM#136880)

Publications

Created: 27 Oct 2021, 4:58 a.m.
Last Modified: 27 Oct 2021, 4:58 a.m.
Panel version: 0.17

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Fundus albipunctatus (MIM#136880)
Congenital Stationary Night Blindness

OMIM

Clinvar variants

Variants in RDH5

Penetrance

None

Publications

Panels with this gene

History Filter Activity

27 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rdh5 has been classified as Green List (High Evidence).

27 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RDH5 were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Fundus albipunctatus, 136880; Fundus albipunctatus; Congenital Stationary Night Blindness to Fundus albipunctatus (MIM#136880); Congenital Stationary Night Blindness

27 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RDH5 were set to

27 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RDH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

23 Feb 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RDH5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RDH5 was added gene: RDH5 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RDH5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RDH5 were set to Achromatopsia, Cone, and Cone-rod Dystrophy; Fundus albipunctatus, 136880; Fundus albipunctatus; Congenital Stationary Night Blindness