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  3. RBP3
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Macular Dystrophy/Stargardt Disease

Gene: RBP3

Amber List (moderate evidence)
RBP3 (retinol binding protein 3)
EnsemblGeneIds (GRCh38): ENSG00000265203
EnsemblGeneIds (GRCh37): ENSG00000107618
OMIM: 180290, Gene2Phenotype
RBP3 is in 4 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Macular sparing is reported in 4 cases from 2 families.
Created: 5 Feb 2020, 4:24 a.m. | Last Modified: 5 Feb 2020, 4:24 a.m.
Panel Version: 0.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 66 MIM#615233

Publications

Created: 5 Feb 2020, 4:24 a.m.
Last Modified: 5 Feb 2020, 4:24 a.m.
Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis pigmentosa 66, 615233
OMIM
180290
Clinvar variants
Variants in RBP3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rbp3 has been classified as Amber List (Moderate Evidence).

9 Oct 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RBP3 were changed from ?Retinitis pigmentosa 66, 615233 to Retinitis pigmentosa 66, 615233

9 Oct 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RBP3 were set to

5 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rbp3 has been classified as Amber List (Moderate Evidence).

30 Dec 2019, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RBP3 was added gene: RBP3 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: RBP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RBP3 were set to ?Retinitis pigmentosa 66, 615233