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| Retinal disorders v8.124 | AP5B1 |
Ida Ertmanska changed review comment from: 2 unrelated cases reported in PMID: 40081374 - see review by Sarah Leigh. New cases: PMID: 41830174 Hussian et al., 2026 2 unrelated European families reported with biallelic AP5B1 variants and AP5B1-related retinopathy. Family 4: female proband, homozygous for AP5B1: c. 2354T>C, p.Leu785Pro. Diagnosed with retinal dystrophy at age 33yrs. Family 5: female proband, age 44yrs (disease onset at 39yrs), with compound het AP5B1 variants: c. 2354T>C, p.Leu785Pro & c.188delA, p.Gln63Argfs*95. This gene is not yet associated with a phenotype in OMIM (accessed 15th Apr 2026).; to: 2 unrelated cases reported in PMID: 40081374 - see review by Sarah Leigh. New cases: PMID: 41830174 Hussain et al., 2026 2 unrelated European families reported with biallelic AP5B1 variants and AP5B1-related retinopathy. Family 4: female proband, homozygous for AP5B1: c. 2354T>C, p.Leu785Pro. Diagnosed with retinal dystrophy at age 33yrs. Family 5: female proband, age 44yrs (disease onset at 39yrs), with compound het AP5B1 variants: c. 2354T>C, p.Leu785Pro & c.188delA, p.Gln63Argfs*95. This gene is not yet associated with a phenotype in OMIM (accessed 15th Apr 2026). |
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| Retinal disorders v8.123 | AP5B1 | Ida Ertmanska Publications for gene: AP5B1 were set to 40081374 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.122 | AP5B1 | Ida Ertmanska Phenotypes for gene: AP5B1 were changed from Lysosomal macular dystrophy to macular dystrophy, retinal, MONDO:0031166 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.121 | AP5B1 | Ida Ertmanska Classified gene: AP5B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.121 | AP5B1 | Ida Ertmanska Added comment: Comment on list classification: There are now 4 unrelated cases with biallelic AP5B1 variants and retinal disease. Hence, this gene can be promoted to Green at the next update, with MOI set to BIALLELIC, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.121 | AP5B1 | Ida Ertmanska Gene: ap5b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.120 | AP5B1 | Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: AP5B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v8.120 | AP5B1 | Ida Ertmanska reviewed gene: AP5B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 40081374, 41830174; Phenotypes: macular dystrophy, retinal, MONDO:0031166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.19 | AP5B1 | Sarah Leigh Phenotypes for gene: AP5B1 were changed from Macular dystrophy to Lysosomal macular dystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.18 | AP5B1 | Sarah Leigh Publications for gene: AP5B1 were set to PMID 40081374 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.17 | AP5B1 | Sarah Leigh Classified gene: AP5B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.17 | AP5B1 | Sarah Leigh Gene: ap5b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.16 | AP5B1 | Sarah Leigh reviewed gene: AP5B1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.13 | AP5Z1 | Sarah Leigh changed review comment from: In PMID: 40081374, Kaminska et al report variants in three of the genes which encode different subunits of the vesicular fifth adaptor protein (AP-5) complex: AP5Z1, AP5M1, and AP5B1, in patients with a specific form of macular degeneration. Seventeen biallelic AP5Z1 variants were been reported in fourteen unrelated families with macular degeneration. Due to the involvement of variants in the AP-5 complex, the authors suggest that the resultant condition should be called lysosomal macular dystrophy.; to: In PMID: 40081374, Kaminska et al report variants in three of the genes which encode different subunits of the vesicular fifth adaptor protein (AP-5) complex: AP5Z1, AP5M1, and AP5B1, in patients with a specific form of macular degeneration. Seventeen biallelic AP5Z1 variants were been reported in fourteen unrelated families, three homozygous AP5M1 variant were found in three unrelated cases and three biallelic AP5B1 variants were found in two unrelated cases. Due to the involvement of variants in the AP-5 complex, the authors suggest that the resultant condition should be called lysosomal macular dystrophy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v7.8 | AP5B1 |
Siying Lin gene: AP5B1 was added gene: AP5B1 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: AP5B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP5B1 were set to PMID 40081374 Phenotypes for gene: AP5B1 were set to Macular dystrophy Mode of pathogenicity for gene: AP5B1 was set to Other Review for gene: AP5B1 was set to GREEN Added comment: 2 individuals from 2 families with biallelic loss of function variants and macular dystrophy Sources: Literature |
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