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| Monogenic hearing loss v5.47 | ARSG | Achchuthan Shanmugasundram Publications for gene: ARSG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.46 | ARSG |
Ida Ertmanska changed review comment from: PMID: 29300381 Khateb et al, 2018 Reported 5 patients from three families of Yemenite Jewish origin, suffering from distinctive retinal degeneration phenotype and moderate / severe sensorineural hearing loss. All patients homozygous for a founder missense variant, c.133G>T (p.D45Y) in ARSG. Vision and hearing loss appeared around the age of 40 years. PMID: 32455177 Abad-Morales et al., 2020 Case report of a 44-year-old female of Spanish origin; progressive nyctalopia, hearing impairment since infancy, retinal phenotype (onset around 40yo); novel homozygous missense mutation c.130G>A (p.Asp44Asn) in the ARSG gene. Method: WES. PMID: 33300174 Peter et al., 2021 3 novel ARSG variants in 2 unrelated Portuguese families; affected individuals presented with retinitis pigmentosa and sensorineural hearing loss, with onset around 40 years of age. Individual 1 = homozygous for NM_014960.4:c.1326del, p.(Ser443AlafsTer12) Individual 2 = compound het for NM_014960.4:c.253T>C, p.(Ser85Pro) and NM_014960.4:c.338G>A, p.(Gly113Asp). PMID: 33629623 Fowler et al., 2021 Report of a 60-year-old male of Persian descent, with history of 20 years of progressive SNHL, and 10 years of progressive peripheral vision loss and pigmentary retinopathy. Homozygous for a ARSG variant c.1270C>T, p.(Arg424Cys). PMID: 35226187 Velde et al., 2022 3 unrelated subjects reported with Usher syndrome and biallelic variants in ARSG - presented with retinitis pigmentosa (onset 40-60yo) and SNHL (onset 20-40 yo): Subject N: compound het for c.1212+1G>A, p.(Val405Ilefs*41) and c.275T>C, p.(Leu92Pro). Subject F: compound het for c.1326del, p.(Ser443Ala fs*12) and c.1024C>T, p.(Arg342Trp). Subject D: compound het for c.588C>A, p.(Tyr196*) and c.705-3940_ 982+2952del, p.(Ser235Arg fs*29).; to: PMID: 29300381 Khateb et al, 2018 Reported 5 patients from three families of Yemenite Jewish origin, suffering from distinctive retinal degeneration phenotype and moderate / severe sensorineural hearing loss. All patients homozygous for a founder missense variant, c.133G>T (p.D45Y) in ARSG. Vision and hearing loss appeared around the age of 40 years. PMID: 32455177 Abad-Morales et al., 2020 Case report of a 44-year-old female of Spanish origin; progressive nyctalopia, hearing impairment since infancy, retinal phenotype (onset around 40yo); novel homozygous missense mutation c.130G>A (p.Asp44Asn) in the ARSG gene. Method: WES. PMID: 33300174 Peter et al., 2021 3 novel ARSG variants in 2 unrelated Portuguese families; affected individuals presented with retinitis pigmentosa and sensorineural hearing loss, with onset around 40 years of age. Individual 1 = homozygous for NM_014960.4:c.1326del, p.(Ser443AlafsTer12) Individual 2 = compound het for NM_014960.4:c.253T>C, p.(Ser85Pro) and NM_014960.4:c.338G>A, p.(Gly113Asp). PMID: 33629623 Fowler et al., 2021 Report of a 60-year-old male of Persian descent, with history of 20 years of progressive SNHL, and 10 years of progressive peripheral vision loss and pigmentary retinopathy. Homozygous for a ARSG variant c.1270C>T, p.(Arg424Cys). PMID: 35226187 Velde et al., 2022 3 unrelated subjects reported with Usher syndrome and biallelic variants in ARSG - presented with retinitis pigmentosa (onset 40-60yo) and SNHL (onset 20-40 yo): Subject N: compound het for c.1212+1G>A, p.(Val405Ilefs*41) and c.275T>C, p.(Leu92Pro). Subject F: compound het for c.1326del, p.(Ser443Ala fs*12) and c.1024C>T, p.(Arg342Trp). Subject D: compound het for c.588C>A, p.(Tyr196*) and c.705-3940_ 982+2952del, p.(Ser235Arg fs*29). ARSG is associated with AR Usher syndrome, type IV, 618144 in OMIM (accessed 27th Oct 2025). |
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| Monogenic hearing loss v5.46 | ARSG |
Ida Ertmanska changed review comment from: PMID: 29300381 Khateb et al, 2018 Reported 5 patients from three families of Yemenite Jewish origin, suffering from distinctive retinal degeneration phenotype and moderate / severe sensorineural hearing loss. All patients homozygous for a founder missense variant, c.133G>T (p.D45Y) in ARSG. Vision and hearing loss appeared around the age of 40 years. PMID: 32455177 Abad-Morales et al., 2020 Case report of a 44-year-old female of Spanish origin; progressive nyctalopia, hearing impairment since infancy, retinal phenotype (onset around 40yo); novel homozygous missense mutation c.130G>A (p.Asp44Asn) in the ARSG gene. Method: WES. PMID: 33300174 Peter et al., 2021 3 novel ARSG variants in 2 unrelated Portuguese families; affected individuals presented with retinitis pigmentosa and sensorineural hearing loss, with onset around 40 years of age. Individual 1 = homozygous for NM_014960.4:c.1326del, p.(Ser443AlafsTer12) Individual 2 = compound het for NM_014960.4:c.253T>C, p.(Ser85Pro) and NM_014960.4:c.338G>A, p.(Gly113Asp). PMID: 33629623 Fowler et al., 2021 Report of a 60-year-old male of Persian descent, with history of 20 years of progressive SNHL, and 10 years of progressive peripheral vision loss and pigmentary retinopathy. Homozygous for a ARSG variant c.1270C>T, p.(Arg424Cys). PMID: 35226187 Velde et al., 2022 3 subjects reported with Usher syndrome and biallelic variants in ARSG - presented with retinitis pigmentosa (onset 40-60yo) and SNHL (onset 20-40 yo): Subject N: compound het for c.1212+1G>A, p.(Val405Ilefs*41) and c.275T>C, p.(Leu92Pro). Subject F: compound het for c.1326del, p.(Ser443Ala fs*12) and c.1024C>T, p.(Arg342Trp). Subject D: compound het for c.588C>A, p.(Tyr196*) and c.705-3940_ 982+2952del, p.(Ser235Arg fs*29).; to: PMID: 29300381 Khateb et al, 2018 Reported 5 patients from three families of Yemenite Jewish origin, suffering from distinctive retinal degeneration phenotype and moderate / severe sensorineural hearing loss. All patients homozygous for a founder missense variant, c.133G>T (p.D45Y) in ARSG. Vision and hearing loss appeared around the age of 40 years. PMID: 32455177 Abad-Morales et al., 2020 Case report of a 44-year-old female of Spanish origin; progressive nyctalopia, hearing impairment since infancy, retinal phenotype (onset around 40yo); novel homozygous missense mutation c.130G>A (p.Asp44Asn) in the ARSG gene. Method: WES. PMID: 33300174 Peter et al., 2021 3 novel ARSG variants in 2 unrelated Portuguese families; affected individuals presented with retinitis pigmentosa and sensorineural hearing loss, with onset around 40 years of age. Individual 1 = homozygous for NM_014960.4:c.1326del, p.(Ser443AlafsTer12) Individual 2 = compound het for NM_014960.4:c.253T>C, p.(Ser85Pro) and NM_014960.4:c.338G>A, p.(Gly113Asp). PMID: 33629623 Fowler et al., 2021 Report of a 60-year-old male of Persian descent, with history of 20 years of progressive SNHL, and 10 years of progressive peripheral vision loss and pigmentary retinopathy. Homozygous for a ARSG variant c.1270C>T, p.(Arg424Cys). PMID: 35226187 Velde et al., 2022 3 unrelated subjects reported with Usher syndrome and biallelic variants in ARSG - presented with retinitis pigmentosa (onset 40-60yo) and SNHL (onset 20-40 yo): Subject N: compound het for c.1212+1G>A, p.(Val405Ilefs*41) and c.275T>C, p.(Leu92Pro). Subject F: compound het for c.1326del, p.(Ser443Ala fs*12) and c.1024C>T, p.(Arg342Trp). Subject D: compound het for c.588C>A, p.(Tyr196*) and c.705-3940_ 982+2952del, p.(Ser235Arg fs*29). |
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| Monogenic hearing loss v5.46 | ARSG | Ida Ertmanska edited their review of gene: ARSG: Added comment: Comment on list classification: There are at least 8 unrelated individuals reported in literature with biallelic ARSG variants, diagnosed with Usher syndrome. All individuals presented with progressive sensorineural hearing loss (onset around 40 years of age). Based on the available evidence, this gene should be promoted Green for Monogenic hearing loss.; Changed publications to: 29300381, 32455177, 33300174, 33629623, 35226187 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.46 | ARSG |
Ida Ertmanska changed review comment from: PMID: 29300381 Khateb et al, 2018 five patients from three families of Yemenite Jewish origin, suffering from distinctive retinal degeneration phenotype and moderate / severe sensorineural hearing loss. All patients homozygous for a afounder missense variant, c.133G>T (p.D45Y) in arylsulfatase G (ARSG). Vision and hearing loss appeared around the age of 40 years. PMID: 32455177 Abad-Morales et al., 2020 Case report of a 44-year-old female of Spanish origin; progressive nyctalopia, hearing impairment since infancy, retinal phenotype (onset around 40yo); novel homozygous missense mutation c.130G>A (p.Asp44Asn) in the ARSG gene. Method: WES. PMID: 33300174 Peter et al., 2021 3 novel ARSG variants in 2 unrelated Portuguese families; affected individuals presented with retinitis pigmentosa and sensorineural hearing loss, with onset around 40 years of age. Individual 1 = homozygous for NM_014960.4:c.1326del, p.(Ser443AlafsTer12) Individual 2 = compound het for NM_014960.4:c.253T>C, p.(Ser85Pro) and NM_014960.4:c.338G>A, p.(Gly113Asp). PMID: 33629623 Fowler et al., 2021 Report of a 60-year-old male of Persian descent, with history of 20 years of progressive SNHL, and 10 years of progressive peripheral vision loss and pigmentary retinopathy. Homozygous for a ARSG variant c.1270C>T, p.(Arg424Cys). PMID: 35226187 Velde et al., 2022 3 subjects reported with Usher syndrome and biallelic variants in ARSG - presented with retinitis pigmentosa (onset 40-60yo) and SNHL (onset 20-40 yo): Subject N: compound het for c.1212+1G>A, p.(Val405Ilefs*41) and c.275T>C, p.(Leu92Pro). Subject F: compound het for c.1326del, p.(Ser443Ala fs*12) and c.1024C>T, p.(Arg342Trp). Subject D: compound het for c.588C>A, p.(Tyr196*) and c.705-3940_ 982+2952del, p.(Ser235Arg fs*29).; to: PMID: 29300381 Khateb et al, 2018 Reported 5 patients from three families of Yemenite Jewish origin, suffering from distinctive retinal degeneration phenotype and moderate / severe sensorineural hearing loss. All patients homozygous for a founder missense variant, c.133G>T (p.D45Y) in ARSG. Vision and hearing loss appeared around the age of 40 years. PMID: 32455177 Abad-Morales et al., 2020 Case report of a 44-year-old female of Spanish origin; progressive nyctalopia, hearing impairment since infancy, retinal phenotype (onset around 40yo); novel homozygous missense mutation c.130G>A (p.Asp44Asn) in the ARSG gene. Method: WES. PMID: 33300174 Peter et al., 2021 3 novel ARSG variants in 2 unrelated Portuguese families; affected individuals presented with retinitis pigmentosa and sensorineural hearing loss, with onset around 40 years of age. Individual 1 = homozygous for NM_014960.4:c.1326del, p.(Ser443AlafsTer12) Individual 2 = compound het for NM_014960.4:c.253T>C, p.(Ser85Pro) and NM_014960.4:c.338G>A, p.(Gly113Asp). PMID: 33629623 Fowler et al., 2021 Report of a 60-year-old male of Persian descent, with history of 20 years of progressive SNHL, and 10 years of progressive peripheral vision loss and pigmentary retinopathy. Homozygous for a ARSG variant c.1270C>T, p.(Arg424Cys). PMID: 35226187 Velde et al., 2022 3 subjects reported with Usher syndrome and biallelic variants in ARSG - presented with retinitis pigmentosa (onset 40-60yo) and SNHL (onset 20-40 yo): Subject N: compound het for c.1212+1G>A, p.(Val405Ilefs*41) and c.275T>C, p.(Leu92Pro). Subject F: compound het for c.1326del, p.(Ser443Ala fs*12) and c.1024C>T, p.(Arg342Trp). Subject D: compound het for c.588C>A, p.(Tyr196*) and c.705-3940_ 982+2952del, p.(Ser235Arg fs*29). |
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| Monogenic hearing loss v5.46 | ARSG |
Ida Ertmanska changed review comment from: PMID: 29300381 Khateb et al, 2018 five patients from three families of Yemenite Jewish origin, suffering from distinctive retinal degeneration phenotype and moderate / severe sensorineural hearing loss. All patients homozygous for a afounder missense variant, c.133G>T (p.D45Y) in arylsulfatase G (ARSG). Vision and hearing loss appeared around the age of 40 years. PMID: 32455177 Abad-Morales et al., 2020 Case report of a 44-year-old female of Spanish origin; progressive nyctalopia, hearing impairment since infancy, retinal phenotype (onset around 40yo); novel homozygous missense mutation c.130G>A (p.Asp44Asn) in the ARSG gene. Method: WES. PMID: 33300174 Peter et al., 2021 3 novel ARSG variants in 2 unrelated Portuguese families; affected individuals presented with retinitis pigmentosa and sensorineural hearing loss, with onset around 40 years of age. Individual 1 = homozygous for NM_014960.4:c.1326del, p.(Ser443AlafsTer12) Individual 2 = compound het for NM_014960.4:c.253T>C, p.(Ser85Pro) and NM_014960.4:c.338G>A, p.(Gly113Asp). PMID: 33629623 Fowler et al., 2021 Report of a 60-year-old male of Persian descent, with history of 20 years of progressive SNHL, and 10 years of progressive peripheral vision loss and pigmentary retinopathy. Homozygous for a ARSG variant c.1270C>T, p.(Arg424Cys). Sources: Other; to: PMID: 29300381 Khateb et al, 2018 five patients from three families of Yemenite Jewish origin, suffering from distinctive retinal degeneration phenotype and moderate / severe sensorineural hearing loss. All patients homozygous for a afounder missense variant, c.133G>T (p.D45Y) in arylsulfatase G (ARSG). Vision and hearing loss appeared around the age of 40 years. PMID: 32455177 Abad-Morales et al., 2020 Case report of a 44-year-old female of Spanish origin; progressive nyctalopia, hearing impairment since infancy, retinal phenotype (onset around 40yo); novel homozygous missense mutation c.130G>A (p.Asp44Asn) in the ARSG gene. Method: WES. PMID: 33300174 Peter et al., 2021 3 novel ARSG variants in 2 unrelated Portuguese families; affected individuals presented with retinitis pigmentosa and sensorineural hearing loss, with onset around 40 years of age. Individual 1 = homozygous for NM_014960.4:c.1326del, p.(Ser443AlafsTer12) Individual 2 = compound het for NM_014960.4:c.253T>C, p.(Ser85Pro) and NM_014960.4:c.338G>A, p.(Gly113Asp). PMID: 33629623 Fowler et al., 2021 Report of a 60-year-old male of Persian descent, with history of 20 years of progressive SNHL, and 10 years of progressive peripheral vision loss and pigmentary retinopathy. Homozygous for a ARSG variant c.1270C>T, p.(Arg424Cys). PMID: 35226187 Velde et al., 2022 3 subjects reported with Usher syndrome and biallelic variants in ARSG - presented with retinitis pigmentosa (onset 40-60yo) and SNHL (onset 20-40 yo): Subject N: compound het for c.1212+1G>A, p.(Val405Ilefs*41) and c.275T>C, p.(Leu92Pro). Subject F: compound het for c.1326del, p.(Ser443Ala fs*12) and c.1024C>T, p.(Arg342Trp). Subject D: compound het for c.588C>A, p.(Tyr196*) and c.705-3940_ 982+2952del, p.(Ser235Arg fs*29). |
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| Monogenic hearing loss v5.46 | ARSG | Ida Ertmanska Tag Q3_25_promote_green tag was added to gene: ARSG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.46 | ARSG | Ida Ertmanska Classified gene: ARSG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.46 | ARSG | Ida Ertmanska Gene: arsg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.45 | ARSG | Ida Ertmanska edited their review of gene: ARSG: Changed publications to: 29300381, 32455177, 33300174, 33629623 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v5.40 | ARSG |
Ida Ertmanska gene: ARSG was added gene: ARSG was added to Monogenic hearing loss. Sources: Other Mode of inheritance for gene: ARSG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSG were set to Usher syndrome, type IV, OMIM:618144; usher syndrome, type 4, MONDO:0029141 Review for gene: ARSG was set to GREEN Added comment: PMID: 29300381 Khateb et al, 2018 five patients from three families of Yemenite Jewish origin, suffering from distinctive retinal degeneration phenotype and moderate / severe sensorineural hearing loss. All patients homozygous for a afounder missense variant, c.133G>T (p.D45Y) in arylsulfatase G (ARSG). Vision and hearing loss appeared around the age of 40 years. PMID: 32455177 Abad-Morales et al., 2020 Case report of a 44-year-old female of Spanish origin; progressive nyctalopia, hearing impairment since infancy, retinal phenotype (onset around 40yo); novel homozygous missense mutation c.130G>A (p.Asp44Asn) in the ARSG gene. Method: WES. PMID: 33300174 Peter et al., 2021 3 novel ARSG variants in 2 unrelated Portuguese families; affected individuals presented with retinitis pigmentosa and sensorineural hearing loss, with onset around 40 years of age. Individual 1 = homozygous for NM_014960.4:c.1326del, p.(Ser443AlafsTer12) Individual 2 = compound het for NM_014960.4:c.253T>C, p.(Ser85Pro) and NM_014960.4:c.338G>A, p.(Gly113Asp). PMID: 33629623 Fowler et al., 2021 Report of a 60-year-old male of Persian descent, with history of 20 years of progressive SNHL, and 10 years of progressive peripheral vision loss and pigmentary retinopathy. Homozygous for a ARSG variant c.1270C>T, p.(Arg424Cys). Sources: Other |
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| Monogenic hearing loss v5.40 | ARSG |
Ida Ertmanska gene: ARSG was added gene: ARSG was added to Monogenic hearing loss. Sources: Other Mode of inheritance for gene: ARSG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSG were set to Usher syndrome, type IV, OMIM:618144; usher syndrome, type 4, MONDO:0029141 Review for gene: ARSG was set to GREEN Added comment: PMID: 29300381 Khateb et al, 2018 five patients from three families of Yemenite Jewish origin, suffering from distinctive retinal degeneration phenotype and moderate / severe sensorineural hearing loss. All patients homozygous for a afounder missense variant, c.133G>T (p.D45Y) in arylsulfatase G (ARSG). Vision and hearing loss appeared around the age of 40 years. PMID: 32455177 Abad-Morales et al., 2020 Case report of a 44-year-old female of Spanish origin; progressive nyctalopia, hearing impairment since infancy, retinal phenotype (onset around 40yo); novel homozygous missense mutation c.130G>A (p.Asp44Asn) in the ARSG gene. Method: WES. PMID: 33300174 Peter et al., 2021 3 novel ARSG variants in 2 unrelated Portuguese families; affected individuals presented with retinitis pigmentosa and sensorineural hearing loss, with onset around 40 years of age. Individual 1 = homozygous for NM_014960.4:c.1326del, p.(Ser443AlafsTer12) Individual 2 = compound het for NM_014960.4:c.253T>C, p.(Ser85Pro) and NM_014960.4:c.338G>A, p.(Gly113Asp). PMID: 33629623 Fowler et al., 2021 Report of a 60-year-old male of Persian descent, with history of 20 years of progressive SNHL, and 10 years of progressive peripheral vision loss and pigmentary retinopathy. Homozygous for a ARSG variant c.1270C>T, p.(Arg424Cys). Sources: Other |
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