Congenital nystagmus

Gene: RDH5

Red List (low evidence)

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Older reports of AD inheritance.
Created: 27 Oct 2021, 4:56 a.m. | Last Modified: 27 Oct 2021, 4:56 a.m.
Panel Version: 0.9502

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Fundus albipunctatus (MIM#136880)

Publications

Belinda Chong (Victorian Clinical Genetics Services)

Red List (low evidence)

PubMed: 14718298 Fishman et al. (2004) evaluated the molecular genetic defects associated with autosomal recessive retinitis punctata albescens in 5 patients from 3 families. One of the probands was compound heterozygous for mutations in the RLBP1 gene; her parents manifested round white deposits in the retina. The other 2 probands had no detected pathogenic mutations in the RLBP1 gene or in 3 other genes evaluated: RDH5, RBP3 (180290), and RDH8 (608575)

PubMed: 11812441 Nakamura and Miyake (2002) reported fundus albipunctatus and a novel macular dystrophy in a 9-year-old boy who was a compound heterozygote for mutations in the RDH5 gene (601617.0006-601617.0007). The authors described the patient's macular findings, visual acuity, and electrophysiologic responses. They concluded that the macular dystrophy was caused by the RDH5 mutations as a phenotype variation of fundus albipunctatus.

Main features are fleck retina and night blindness
Created: 27 Oct 2021, 12:42 a.m. | Last Modified: 27 Oct 2021, 12:42 a.m.
Panel Version: 0.96

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Fundus albipunctatus 136880

Publications

Variants in this GENE are reported as part of current diagnostic practice

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 32232344
25 patients from 22 families reported
variable degree of macular involvement was noted

NOTE: OMIM lists AD and AR. However, unable to find any AD reports
Created: 22 Feb 2021, 10:01 p.m. | Last Modified: 22 Feb 2021, 10:01 p.m.
Panel Version: 0.6418

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Fundus albipunctatus (MIM#136880)

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fundus albipunctatus, MIM# 136880
OMIM
601617
Clinvar variants
Variants in RDH5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rdh5 has been classified as Red List (Low Evidence).

27 Oct 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Oct 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RDH5 were set to

27 Oct 2021, Gel status: 1

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

27 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rdh5 has been classified as Red List (Low Evidence).

6 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RDH5 was added gene: RDH5 was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: RDH5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RDH5 were set to Congenital Stationary Night Blindness; Fundus albipunctatus; Fundus albipunctatus, 136880; Achromatopsia, Cone, and Cone-rod Dystrophy