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Mendeliome

Gene: RD3

Green List (high evidence)

RD3 (retinal degeneration 3)
EnsemblGeneIds (GRCh38): ENSG00000198570
EnsemblGeneIds (GRCh37): ENSG00000198570
OMIM: 180040, Gene2Phenotype
RD3 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, more than 10 families reported.
Created: 27 Oct 2021, 1:58 a.m. | Last Modified: 27 Oct 2021, 1:58 a.m.
Panel Version: 0.9490

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber congenital amaurosis 12, MIM#610612

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leber congenital amaurosis 12, MIM#610612
OMIM
180040
Clinvar variants
Variants in RD3
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: rd3 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: RD3 were changed from to Leber congenital amaurosis 12, MIM#610612

27 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RD3 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: RD3 was changed from Unknown to 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: RD3 was added gene: RD3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RD3 was set to Unknown