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Mendeliome

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 2 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

I don't know

ICG 2023 poster:
- consanguineous family of three homozygous siblings and a 1st cousin with retinitis pigmentosa, muscle weakness and ID.
- One proband had serum CK tested, was elevated
- Variant was a PTC (p.Tyr135*)
Created: 21 Jul 2023, 4:41 a.m. | Last Modified: 21 Jul 2023, 4:41 a.m.
Panel Version: 1.972

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

2nd case reported: 1 Chinese patient with retinitis pigmentosa, juvenile cataracts, intellectual disability, and myopathy. Trio-based WES and whole genomic CNV detection found compound heterozygous variants in RDH11 (p.Leu313Pro and c.75-3C>A) with biparental inheritance. Variant c.75-3C>A was confirmed to be a splice-site mutation by cDNA sequencing. It caused exon 2 skipping, resulting in a frameshift mutation and premature translation termination (p.Lys26Serfs*38). They found mislocalization of RDH11 protein in muscle cells of the patient by using immunofluorescence staining. Retinol dehydrogenase 11 (RDH11) is an 11-cis-retinol dehydrogenase that has a well-characterized, albeit auxiliary role in the retinoid cycle. Diseases caused by mutations in the RDH11 gene are very rare, and only one affected family with eye and intelligence involvement has been reported.
Created: 23 May 2022, 9:20 a.m. | Last Modified: 23 May 2022, 9:20 a.m.
Panel Version: 1.3
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.
Sources: Expert list
Created: 13 Oct 2020, 11:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

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

History Filter Activity

23 May 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rdh11 has been classified as Amber List (Moderate Evidence).

13 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rdh11 has been classified as Red List (Low Evidence).

13 Oct 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RDH11 was added gene: RDH11 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: RDH11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RDH11 were set to 24916380; 15634683; 30731079; 18326732 Phenotypes for gene: RDH11 were set to Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108 Review for gene: RDH11 was set to RED