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| Retinal disorders v8.74 | RNU6-1 |
Ida Ertmanska changed review comment from: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in individuals from 6 families. RNU6-9 specific data: n.55_56insG insertion in RNU6-9 reported in numerous patients from 14 diverse RP families - 3 cases confirmed and 6 suspected to be de novo; n.56_57insG detected in 3 unrelated adRP families (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature; to: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in individuals from 6 families. RNU6-1 specific data: n.55_56insG insertion in RNU6-1 reported in patients from 4 diverse RP families - 2 cases suspected to be de novo; n.56_57insG detected in 2 unrelated adRP families (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.73 | RNU6-1 |
Ida Ertmanska gene: RNU6-1 was added gene: RNU6-1 was added to Retinal disorders. Sources: Literature Q4_25_promote_green tags were added to gene: RNU6-1. Mode of inheritance for gene: RNU6-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNU6-1 were set to 39830270 Phenotypes for gene: RNU6-1 were set to retinitis pigmentosa, MONDO:0019200 Review for gene: RNU6-1 was set to GREEN Added comment: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in individuals from 6 families. RNU6-9 specific data: n.55_56insG insertion in RNU6-9 reported in numerous patients from 14 diverse RP families - 3 cases confirmed and 6 suspected to be de novo; n.56_57insG detected in 3 unrelated adRP families (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.72 | RNU4-2 |
Ida Ertmanska changed review comment from: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. Recurrent variants in RNU4-2 were identified in 41 affected individuals from 15 families; incomplete penetrance was observed for nine obligate carriers, without visual symptoms. Range of ethnicities: Spanish, German, Polish, USA, Indian Jewish, Afro-carribean, Belgian. Recurrent variants: n.56T>C, n.18_19insA - not reported in gnomAD v4.1.0. Family M1-A - 7 siblings and father affected - het for RNU4-2 NR_003137.2:n.18_19insA. Method: genome sequencing. Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature; to: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. Recurrent variants in RNU4-2 were identified in 41 affected individuals from 15 families - 1 case de novo; incomplete penetrance was observed for nine obligate carriers, without visual symptoms. Range of ethnicities: Spanish, German, Polish, USA, Indian Jewish, Afro-carribean, Belgian. Recurrent variants: n.56T>C, n.18_19insA - not reported in gnomAD v4.1.0. Family M1-A - 7 siblings and father affected - het for RNU4-2 NR_003137.2:n.18_19insA. Method: genome sequencing. Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.71 | RNU6-9 |
Ida Ertmanska changed review comment from: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in individuals from 6 families. RNU6-9 specific data: n.55_56insG insertion in RNU6-9 reported in numerous patients from 14 diverse RP families - 3 cases confirmed and 6 suspected to be de novo; n.56_57insG detected in 3 unrelated adRP families (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature Sources: Literature; to: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in individuals from 6 families. RNU6-9 specific data: n.55_56insG insertion in RNU6-9 reported in numerous patients from 14 diverse RP families - 3 cases confirmed and 6 suspected to be de novo; n.56_57insG detected in 3 unrelated adRP families (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.71 | RNU6-9 |
Ida Ertmanska gene: RNU6-9 was added gene: RNU6-9 was added to Retinal disorders. Sources: Literature Q4_25_promote_green tags were added to gene: RNU6-9. Mode of inheritance for gene: RNU6-9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNU6-9 were set to 39830270 Phenotypes for gene: RNU6-9 were set to retinitis pigmentosa, MONDO:0019200 Review for gene: RNU6-9 was set to GREEN Added comment: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in individuals from 6 families. RNU6-9 specific data: n.55_56insG insertion in RNU6-9 reported in numerous patients from 14 diverse RP families - 3 cases confirmed and 6 suspected to be de novo; n.56_57insG detected in 3 unrelated adRP families (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature Sources: Literature |
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| Retinal disorders v8.70 | RNU6-2 |
Ida Ertmanska changed review comment from: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in individuals from 6 families. RNU6-2 specific data: n.55_56insG insertion in RNU6-2 reported in 13 diverse RP families; n.56_57insG in RNU6-2 detected in 1 RP family (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature; to: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in individuals from 6 families. RNU6-2 specific data: n.55_56insG insertion in RNU6-2 reported in 13 diverse RP families - 3 cases confirmed de novo, 3 suspected to be de novo; n.56_57insG in RNU6-2 detected in 1 RP family (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.69 | RNU6-8 |
Ida Ertmanska gene: RNU6-8 was added gene: RNU6-8 was added to Retinal disorders. Sources: Literature Q4_25_promote_green tags were added to gene: RNU6-8. Mode of inheritance for gene: RNU6-8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNU6-8 were set to 39830270 Phenotypes for gene: RNU6-8 were set to retinitis pigmentosa, MONDO:0019200 Review for gene: RNU6-8 was set to GREEN Added comment: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in individuals from 6 families. RNU6-8 specific data: n.55_56insG insertion in RNU6-8 reported in numerous patients from 12 diverse RP families - 1 case confirmed and 1 suspected to be de novo; n.56_57insG not detected in RNU6-8 (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.68 | RNU6-2 |
Ida Ertmanska changed review comment from: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in individuals from 6 families. RNU6-2 specific data: n.55_56insG insertion in RNU6-2 reported in 13 diverse RP families; n.56_57insG in RNU6-2 detected in 1 RP family (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature; to: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in individuals from 6 families. RNU6-2 specific data: n.55_56insG insertion in RNU6-2 reported in 13 diverse RP families; n.56_57insG in RNU6-2 detected in 1 RP family (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.68 | RNU6-2 |
Ida Ertmanska changed review comment from: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in 6 families. RNU6-2 specific data: n.55_56insG insertion in RNU6-2 reported in 13 diverse RP families; n.56_57insG in RNU6-2 detected in 1 RP family (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature; to: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in individuals from 6 families. RNU6-2 specific data: n.55_56insG insertion in RNU6-2 reported in 13 diverse RP families; n.56_57insG in RNU6-2 detected in 1 RP family (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.67 | RNU6-2 |
Ida Ertmanska gene: RNU6-2 was added gene: RNU6-2 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: RNU6-2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNU6-2 were set to 39830270 Phenotypes for gene: RNU6-2 were set to retinitis pigmentosa, MONDO:0019200 Review for gene: RNU6-2 was set to GREEN Added comment: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. n.55_56insG insertion recurred in the RNU6 paralogs (RNU6-1, RNU6-2, RNU6-8, and RNU6-9) - 102 individuals from 47 diverse, unrelated families. Pathogenic variants were NOT detected in RNU6-7. Insertion at the same position, n.55_56insT, is reported in gnomAD in all 5 paralogs (181 alleles total). Insertion n.56_57insG was detected in RNU6 paralogs in 6 families. RNU6-2 specific data: n.55_56insG insertion in RNU6-2 reported in 13 diverse RP families; n.56_57insG in RNU6-2 detected in 1 RP family (based on pre-print supplementary table 2). Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.66 | RNU4-2 |
Ida Ertmanska changed review comment from: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. Recurrent variants in RNU4-2 were identified in 41 affected individuals from 15 families; incomplete penetrance was observed for nine obligate carriers, without visual symptoms. Recurrent variants: n.56T>C, n.18_19insA - not reported in gnomAD v4.1.0. Family M1-A - 7 siblings and father affected - het for RNU4-2 NR_003137.2:n.18_19insA. Method: genome sequencing. Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Range of ethnicities: Spanish, German, Polish, USA, Indian Jewish, Afro-carribean, Belgian. Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature; to: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. Recurrent variants in RNU4-2 were identified in 41 affected individuals from 15 families; incomplete penetrance was observed for nine obligate carriers, without visual symptoms. Range of ethnicities: Spanish, German, Polish, USA, Indian Jewish, Afro-carribean, Belgian. Recurrent variants: n.56T>C, n.18_19insA - not reported in gnomAD v4.1.0. Family M1-A - 7 siblings and father affected - het for RNU4-2 NR_003137.2:n.18_19insA. Method: genome sequencing. Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.65 | RNU4-2 |
Ida Ertmanska changed review comment from: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. Recurrent variants in RNU4-2 were identified in 41 affected individuals from 15 families; incomplete penetrance was observed for nine obligate carriers, without visual symptoms. Recurrent variants: n.56T>C, n.18_19insA - not reported in gnomAD v4.1.0. Family M1-A - 7 siblings and father affected - het for RNU4-2 NR_003137.2:n.18_19insA. Method: genome sequencing. Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), cataract/lens opacity (24%), vitreoretinal complications (31%). Range of ethnicities: Spanish, German, Polish, USA, Indian Jewish, Afro-carribean, Belgian. Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature; to: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. Recurrent variants in RNU4-2 were identified in 41 affected individuals from 15 families; incomplete penetrance was observed for nine obligate carriers, without visual symptoms. Recurrent variants: n.56T>C, n.18_19insA - not reported in gnomAD v4.1.0. Family M1-A - 7 siblings and father affected - het for RNU4-2 NR_003137.2:n.18_19insA. Method: genome sequencing. Details for patients with U4 and U6 changes: Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), non-age-related cataract / lens opacity (24%), vitreoretinal complications (31%). Range of ethnicities: Spanish, German, Polish, USA, Indian Jewish, Afro-carribean, Belgian. Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.65 | RNU4-2 |
Ida Ertmanska changed review comment from: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. Recurrent variants in RNU4-2 were identified in 41 affected individuals from 15 families; incomplete penetrance was observed for nine obligate carriers, without visual symptoms. Recurrent variants: n.56T>C, n.18_19insA - not reported in gnomAD v4.1.0. Family M1-A - 7 siblings and father affected - het for RNU4-2 NR_003137.2:n.18_19insA. Method: genome sequencing. Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature; to: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. Recurrent variants in RNU4-2 were identified in 41 affected individuals from 15 families; incomplete penetrance was observed for nine obligate carriers, without visual symptoms. Recurrent variants: n.56T>C, n.18_19insA - not reported in gnomAD v4.1.0. Family M1-A - 7 siblings and father affected - het for RNU4-2 NR_003137.2:n.18_19insA. Method: genome sequencing. Age of onset of RP: under 12yo = 42 patients (62%); 13-19 years = 11; 20-30 years = 8; adulthood 30+ = 7 patients. Phenotype spectrum in addition to classical RP features: ocular edema (56%), cataract/lens opacity (24%), vitreoretinal complications (31%). Range of ethnicities: Spanish, German, Polish, USA, Indian Jewish, Afro-carribean, Belgian. Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.65 | RNU4-2 |
Ida Ertmanska changed review comment from: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. Recurrent variants in RNU4-2 were identified in 41 affected individuals from 15 families; incomplete penetrance was observed for nine obligate carriers, without visual symptoms. Recurrent variants: n.56T>C, n.18_19insA - not reported in gnomAD v4.1.0. Family M1-A - 7 siblings and father affected - het for RNU4-2 NR_003137.2:n.18_19insA. Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature; to: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. Recurrent variants in RNU4-2 were identified in 41 affected individuals from 15 families; incomplete penetrance was observed for nine obligate carriers, without visual symptoms. Recurrent variants: n.56T>C, n.18_19insA - not reported in gnomAD v4.1.0. Family M1-A - 7 siblings and father affected - het for RNU4-2 NR_003137.2:n.18_19insA. Method: genome sequencing. Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v8.65 | RNU4-2 |
Ida Ertmanska gene: RNU4-2 was added gene: RNU4-2 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: RNU4-2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RNU4-2 were set to 39830270 Phenotypes for gene: RNU4-2 were set to retinitis pigmentosa, MONDO:0019200 Review for gene: RNU4-2 was set to GREEN Added comment: PMID: 39830270 Quinodoz et al., 2025 Large cohort of RP patients screened using Sanger sequencing of genes encoding U4 and U6. Reported 153 individuals across 67 families with retinitis pigmentosa, with monoallelic variants in RNU4-2 and RNU6 paralogs. Recurrent variants in RNU4-2 were identified in 41 affected individuals from 15 families; incomplete penetrance was observed for nine obligate carriers, without visual symptoms. Recurrent variants: n.56T>C, n.18_19insA - not reported in gnomAD v4.1.0. Family M1-A - 7 siblings and father affected - het for RNU4-2 NR_003137.2:n.18_19insA. Functional effect prediction: RP-related variants identified reside in a region that critical for binding of the U4/U6 duplex to the splicing factors PRPF31, PRPF3, and PRPF8 - genes previously linked to AD retinitis pigmentosa. Sources: Literature |
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| Retinal disorders v1.159 | PRPF31 | Gavin Arno reviewed gene: PRPF31: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.159 | PRPF3 | Gavin Arno reviewed gene: PRPF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v1.137 | PRPF31 |
Ivone Leong Source NHS GMS was added to PRPF31. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Retinal disorders v1.137 | PRPF3 |
Ivone Leong Source NHS GMS was added to PRPF3. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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| Retinal disorders | PRPF31 | BRIDGE consortium reviewed PRPF31 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||