Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: RLBP1

Green List (high evidence)

RLBP1 (retinaldehyde binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000140522
EnsemblGeneIds (GRCh37): ENSG00000140522
OMIM: 180090, Gene2Phenotype
RLBP1 is in 4 panels

0 reviews

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Retinitis punctata albescens
  • Newfoundland rod - cone dystrophy
  • Fundus albipunctatus, 136880
  • Fundus albipunctatus
  • Bothnia retinal dystrophy
OMIM
180090
Clinvar variants
Variants in RLBP1
Penetrance
None
Panels with this gene

History Filter Activity

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RLBP1 was added gene: RLBP1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RLBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RLBP1 were set to Retinitis punctata albescens; Newfoundland rod - cone dystrophy; Fundus albipunctatus, 136880; Fundus albipunctatus; Bothnia retinal dystrophy