Retinal disorders

Gene: RLBP1

Green List (high evidence)

Comment on mode of inheritance: All patients reported with the four different, but related phenotypes (MIMs #607475, #136880 & #607476) were identified with biallelic RLBP1 variants. There are no published reports associating monoallelic RLBP1 variants with any relevant phenotype. Hence, the MOI should be updated to 'BIALLELIC, autosomal or pseudoautosomal' in the next GMS update.

Created: 15 Oct 2025, 1:43 p.m. | Last Modified: 15 Oct 2025, 1:43 p.m.

Panel Version: 8.50

Comment on phenotypes: OMIM phenotypes accessed on 15 October 2025.

Created: 15 Oct 2025, 1:33 p.m. | Last Modified: 15 Oct 2025, 1:33 p.m.

Panel Version: 8.49

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fundus albipunctatus, OMIM:136880; Retinitis punctata albescens, OMIM:136880; Bothnia retinal dystrophy, OMIM:607475; Newfoundland rod-cone dystrophy, OMIM:607476

Publications

• 11176989
• 11868161
• 11453974
• 21447491
• 32345050
• 37883093

Green List (high evidence)

Query the monoallelic MOI - should only be biallelic?

Created: 2 May 2025, 9:23 p.m. | Last Modified: 2 May 2025, 9:23 p.m.

Panel Version: 8.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bothnia retinal dystrophy; Fundus albipunctatus; Newfoundland rod-cone dystrophy; Retinitis punctata albescens

Variants in this GENE are reported as part of current diagnostic practice

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.

Created: 2 Jun 2016, 8:05 a.m.