Activity
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14 actions
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| Laterality disorders and isomerism v3.20 | ARL2BP |
Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: ARL2BP. Tag Q2_24_MOI was removed from gene: ARL2BP. Tag Q2_24_NHS_review was removed from gene: ARL2BP. |
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| Laterality disorders and isomerism v3.20 | ARL2BP | Achchuthan Shanmugasundram reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v3.19 | ARL2BP |
Achchuthan Shanmugasundram Source NHS GMS was added to ARL2BP. Source Expert Review Green was added to ARL2BP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Laterality disorders and isomerism v3.15 | ARL2BP | Sarah Leigh changed review comment from: ARL2BP variants have been associated with Retinitis pigmentosa with or without situs inversus (OMIM:615434) and as definitive Gen2Phen gene for Retinitis pigmentosa with or without situs inversus. At least five ARL2BP variants have been reported in unrelated cases of OMIM:615434 (PMID: 23849777; 27790702; 36507858; 38649918). Segregation evidence was presented from two families in PMID: 23849777. Supportive functional studies, together with a mouse model have been reported (PMID: 31425546).; to: ARL2BP variants have been associated with Retinitis pigmentosa with or without situs inversus (OMIM:615434) and as definitive Gen2Phen gene for Retinitis pigmentosa with or without situs inversus. At least five ARL2BP variants have been reported in unrelated cases of OMIM:615434 (PMID: 23849777; 27790702; 36507858; 38649918). Segregation evidence was presented from two families in PMID: 23849777. Supportive functional studies, together with a mouse model have been reported (PMID: 31425546). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v3.15 | ARL2BP |
Sarah Leigh Tag Q2_24_promote_green tag was added to gene: ARL2BP. Tag Q2_24_MOI tag was added to gene: ARL2BP. Tag Q2_24_NHS_review tag was added to gene: ARL2BP. |
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| Laterality disorders and isomerism v3.15 | ARL2BP | Sarah Leigh Publications for gene: ARL2BP were set to 36507858; 38649918; 23849777; 31425546 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v3.14 | ARL2BP | Sarah Leigh reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v3.14 | ARL2BP | Sarah Leigh Phenotypes for gene: ARL2BP were changed from Retinitis pigmentosa with or without situs inversus, OMIM:615434 to Retinitis pigmentosa with or without situs inversus, OMIM:615434; retinitis pigmentosa with or without situs inversus, MONDO:0014186 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v3.13 | ARL2BP | Sarah Leigh Phenotypes for gene: ARL2BP were changed from Situs Inversus to Retinitis pigmentosa with or without situs inversus, OMIM:615434 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v3.12 | ARL2BP | Sarah Leigh Publications for gene: ARL2BP were set to 36507858; 38649918; 38649918 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v3.11 | ARL2BP | Sarah Leigh Classified gene: ARL2BP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v3.11 | ARL2BP | Sarah Leigh Gene: arl2bp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Laterality disorders and isomerism v3.10 | ARL2BP |
Nour Elkhateeb changed review comment from: Biallelic ARL2BP variants are reported to be associated with Retinitis pigmentosa with or without situs inversus. Situs inversus is reported in several reports including PMID 36507858, 38649918, 38649918. ARL2BP is a ciliary gene associated with multiple ciliopathy phenotypes. ARL2BP murine knockout model showed similar phenotypes to humans, including retinal degeneration, immotile sperm cells and impaired spermatogenesis, as well as situs inversus and increased brain ventricular volume (PMID: 31425546). Sources: Literature; to: Biallelic ARL2BP variants are reported to be associated with Retinitis pigmentosa with or without situs inversus. Situs inversus is reported in several reports including PMID 36507858, 38649918, 23849777. ARL2BP is a ciliary gene associated with multiple ciliopathy phenotypes. ARL2BP murine knockout model showed similar phenotypes to humans, including retinal degeneration, immotile sperm cells and impaired spermatogenesis, as well as situs inversus and increased brain ventricular volume (PMID: 31425546). Sources: Literature |
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| Laterality disorders and isomerism v3.10 | ARL2BP |
Nour Elkhateeb gene: ARL2BP was added gene: ARL2BP was added to Laterality disorders and isomerism. Sources: Literature Mode of inheritance for gene: ARL2BP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL2BP were set to 36507858; 38649918; 38649918 Phenotypes for gene: ARL2BP were set to Situs Inversus Review for gene: ARL2BP was set to GREEN Added comment: Biallelic ARL2BP variants are reported to be associated with Retinitis pigmentosa with or without situs inversus. Situs inversus is reported in several reports including PMID 36507858, 38649918, 38649918. ARL2BP is a ciliary gene associated with multiple ciliopathy phenotypes. ARL2BP murine knockout model showed similar phenotypes to humans, including retinal degeneration, immotile sperm cells and impaired spermatogenesis, as well as situs inversus and increased brain ventricular volume (PMID: 31425546). Sources: Literature |
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