Retinal disorders
Gene: RAX2
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
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.
Publications for gene: RAX2 were set to
Mode of inheritance for gene: RAX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAX2 were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Macular Degeneration; Eye Disorders; Cone-Rod Dystrophy, Dominant; Cone-rod dystrophy 11 to Cone-rod dystrophy 11, OMIM:610381; Retinitis pigmentosa 95, OMIM:620102; ?Macular degeneration, age-related, 6, OMIM:613757
Tag Q1_24_MOI tag was added to gene: RAX2.
Source NHS GMS was added to RAX2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for RAX2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene RAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
RAX2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
RAX2 was created by ellenmcdonagh