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Mendeliome

Gene: RHO

Green List (high evidence)

RHO (rhodopsin)
EnsemblGeneIds (GRCh38): ENSG00000163914
EnsemblGeneIds (GRCh37): ENSG00000163914
OMIM: 180380, Gene2Phenotype
RHO is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease associations.
Created: 27 Oct 2021, 3:28 a.m. | Last Modified: 27 Oct 2021, 3:28 a.m.
Panel Version: 0.9496

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Night blindness, congenital stationary, autosomal dominant 1, MIM# 610445; Retinitis pigmentosa 4, autosomal dominant or recessive, MIM# 613731

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Night blindness, congenital stationary, autosomal dominant 1, MIM# 610445
  • Retinitis pigmentosa 4, autosomal dominant or recessive, MIM# 613731
OMIM
180380
Clinvar variants
Variants in RHO
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: rho 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: RHO were changed from to Night blindness, congenital stationary, autosomal dominant 1, MIM# 610445; Retinitis pigmentosa 4, autosomal dominant or recessive, MIM# 613731

27 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RHO 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: RHO was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RHO was added gene: RHO was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RHO was set to Unknown