Retinal disorders

Gene: RAX2

The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.

Created: 26 Sep 2024, 3:50 p.m. | Last Modified: 26 Sep 2024, 3:50 p.m.

Panel Version: 6.7

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Green List (high evidence)

Comment on mode of inheritance: There is sufficient evidence available for the association of biallelic RAX2 variants with retinitis pigmentosa. Hence, the MOI should be updated from 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS review.

Created: 5 Feb 2024, 6:52 p.m. | Last Modified: 5 Feb 2024, 6:53 p.m.

Panel Version: 4.58

PMID:30377383 reported five unrelated individuals of European descent with nonsyndromic autosomal recessive retinitis pigmentosa (ARRP) with an age of onset ranging from childhood to the mid-40s (average mid-30s). They were identified with biallelic RAX2 variants. Protein structure modelling suggests loss of function mechanism for rep[orted recessive missense variants. Haplotyping of c.335dup variant in two cases suggests a common ancestry.

Both monoallelic and biallelic variants from RAX2 has been associated with relevant phenotypes in both OMIM (MIMs #610381 & #620102) and Gene2Phenotype (with 'definitive' rating for biallelic and 'strong' rating for monoallelic variants in the Eye panel).

Created: 5 Feb 2024, 6:48 p.m. | Last Modified: 5 Feb 2024, 6:48 p.m.

Panel Version: 4.56

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cone-rod dystrophy 11, OMIM:610381; Retinitis pigmentosa 95, OMIM:620102; ?Macular degeneration, age-related, 6, OMIM:613757

Publications

• 30377383
• 30607024

Green List (high evidence)

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.

Comment on mode of inheritance: For Cone-rod dystrophy 11.

Created: 22 Mar 2016, 2:13 p.m.