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  3. RDH11
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Retinal disorders

Gene: RDH11

Amber List (moderate evidence)
RDH11 (retinol dehydrogenase 11 (all-trans/9-cis/11-cis))
EnsemblGeneIds (GRCh38): ENSG00000072042
EnsemblGeneIds (GRCh37): ENSG00000072042
OMIM: 607849, Gene2Phenotype
RDH11 is in 1 panel

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single family reported with compound heterozygous LOF variants segregating with disease in three siblings. Some functional data, but note mouse KO did not have eye phenotype.
Created: 13 Oct 2020, 11:07 p.m. | Last Modified: 13 Oct 2020, 11:07 p.m.
Panel Version: 2.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108

Publications

Created: 13 Oct 2020, 11:07 p.m.
Last Modified: 13 Oct 2020, 11:07 p.m.
Panel version: 2.20

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.
Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.
Panel Version: 2.5
Created: 27 Dec 2019, 9:10 a.m.
Last Modified: 27 Dec 2019, 9:10 a.m.
Panel version: 2.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • RetNet
  • Expert Review Amber
Phenotypes
  • ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108
OMIM
607849
Clinvar variants
Variants in RDH11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jan 2021, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: RDH11 was changed from to BIALLELIC, autosomal or pseudoautosomal

27 Jan 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: RDH11 were changed from to ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM:616108

27 Jan 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: RDH11 were set to

27 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: RDH11 was added gene: RDH11 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: RDH11 was set to