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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. RBP3
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: RBP3

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 families and an animal model.
Created: 11 May 2022, 11:59 p.m. | Last Modified: 11 May 2022, 11:59 p.m.
Panel Version: 0.124

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 66, MIM# 615233

Publications

Created: 11 May 2022, 11:59 p.m.
Last Modified: 11 May 2022, 11:59 p.m.
Panel version: 0.124

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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

11 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rbp3 has been classified as Green List (High Evidence).

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RBP3 was added gene: RBP3 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RBP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBP3 were set to 19074801; 25766589; 19357286; 9614228 Phenotypes for gene: RBP3 were set to Retinitis pigmentosa 66, 615233